PPT-CNV L arr [GRCh37] Xq22.2

102534742103114881x3 8yearold female with autism Note These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set no single CNV will necessarily cover all evidence types  These are not actual CNVs that have been observed in a laboratory setting  As such please evaluate the coordinates as given regardless of other considerations that may apply in the actual clinical laboratory setting  For example if your CNV is below the size cutoff your laboratory uses on a daily basis please disregard this for the sake of this exercise and evaluate the content within the provided coordinates Assume that the CNV is technically valid. d to quit worrying. Deanna M. Church . Staff Scientist, NCBI. @. deannachurch. Short Course in Medical Genetics 2013. And love multiple coordinate systems. Alternate loci/Patch. RefSeqGene. /LRG. Transcripts (NM_XXXXXX.X). V.A. Schneider, P. Flicek, T. Graves, T. Hubbard & D.M. Church for. the Genome Reference Consortium. http://genomereference.org. @GenomeRef. GRCh37.p13 Assembly Statistics. The GRCh38 human . reference assembly . (76738122-76743018) x3 . 4 year old female with developmental delay. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (1379519_1435227)x1. 2-month-old female with unilateral renal agenesis; inheritance unknown. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (68797032_68846703) x3 . 35-year-old male with gastric cancer. Additional studies have proven that the duplication is in tandem.. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (13029888-14707559)x3. No phenotype or inheritance information provided. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 3 year-old female referred for genomic microarray testing due to postnatal growth deficiency, VSD, scoliosis, hand anomalies, hearing loss, craniofacial dysmorphism. CNV is maternally inherited. Our Patient (Case V). No phenotype or inheritance information provided. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (8952198_9486394)x3 . dn. 7-year-old male with lissencephaly. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (175816894_177834521)x3 mat. 6-year-old male with autism; mother unaffected. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 2-month-old female with Tetralogy of Fallot; inheritance unknown. Clinical information. arr. [GRCh37] 19p13.11(18291753_18311626) x3 . 2-month-old female with Tetralogy of Fallot. Inheritance information not available. Mb. )(. GRCh37. ). Figure E1. Seattle Cohort. REL. CNBP. BHLHE40. BHLHE40. rs1177206. rs34695944. rs2901182. rs842634. rs191290298. rs13019590. rs1177211. rs6808127. rs11922612. rs1514453. rs18929425. (155887333_156224120) x3. Newborn with unspecified brain malformation. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (30507853_30807921) x1 pat. 6 month old male with Tetralogy of Fallot. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid..