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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096399copy number variation1nstd102humanPathogenic GRCh37 chr2: 217,341,812-217,341,952 , GRCh38.p12 chr2: 216,477,089-216,477,229 SMARCAL1
    nsv7096398copy number variation1nstd102humanPathogenic GRCh37 chr2: 217,279,428-217,281,050 , GRCh38.p12 chr2: 216,414,705-216,416,327 SMARCAL1
    nsv7096239copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,279,428-217,347,700 , GRCh38.p12 chr2: 216,414,705-216,482,977 RPL37A-DT, SMARCAL1
    nsv7096135copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,311,721-217,311,901 , GRCh38.p12 chr2: 216,446,998-216,447,178 SMARCAL1
    nsv7047048inversion1nstd229human GRCh38 chr2: 216,286,412-216,579,954 , GRCh37.p13 chr2: 217,151,135-217,444,677 RPL37A-DT, RPL37A, 8 more genes
    nsv6697305copy number variation1nstd229human GRCh38 chr2: 216,470,716-216,479,357 , GRCh37.p13 chr2: 217,335,439-217,344,080 SMARCAL1
    nsv6697271copy number variation1nstd229human GRCh38 chr2: 216,432,001-216,436,300 , GRCh37.p13 chr2: 217,296,724-217,301,023 SMARCAL1
    nsv6693893copy number variation1nstd229human GRCh38 chr2: 216,457,863-216,462,299 , GRCh37.p13 chr2: 217,322,586-217,327,022 SMARCAL1
    nsv6691964copy number variation1nstd229human GRCh38 chr2: 216,408,431-216,423,035 , GRCh37.p13 chr2: 217,273,154-217,287,758 SMARCAL1, SMARCAL1-AS1
    nsv6689915copy number variation1nstd229human GRCh38 chr2: 216,442,406-216,443,356 , GRCh37.p13 chr2: 217,307,129-217,308,079 SMARCAL1
    nsv6687078copy number variation1nstd229human GRCh38 chr2: 216,440,601-216,485,800 , GRCh37.p13 chr2: 217,305,324-217,350,523 SMARCAL1, RPL37A-DT
    nsv6685966copy number variation1nstd229human GRCh38 chr2: 216,286,401-216,589,900 , GRCh37.p13 chr2: 217,151,124-217,454,623 LINC01280, RPL37A-DT, 9 more genes
    nsv6684651copy number variation1nstd229human GRCh38 chr2: 216,413,048-216,418,210 , GRCh37.p13 chr2: 217,277,771-217,282,933 SMARCAL1
    nsv6684599copy number variation1nstd229human GRCh38 chr2: 216,262,332-216,787,882 , GRCh37.p13 chr2: 217,127,055-217,652,605 LOC107985983, RPL31P14, 14 more genes
    nsv6682690copy number variation1nstd229human GRCh38 chr2: 216,418,895-216,524,667 , GRCh37.p13 chr2: 217,283,618-217,389,390 RPL37A, LOC101928156, 2 more genes
    nsv6682128copy number variation1nstd229human GRCh38 chr2: 216,422,432-216,428,738 , GRCh37.p13 chr2: 217,287,155-217,293,461 SMARCAL1
    nsv6349076copy number variation1nstd223human GRCh38 chr2: 216,433,714-216,434,089 , GRCh37.p13 chr2: 217,298,437-217,298,812 SMARCAL1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315004inversion1nstd102humanLikely pathogenic GRCh38 chr2: 216,370,024-216,479,573 , GRCh37.p13 chr2: 217,234,747-217,344,296 SMARCAL1, MARCHF4, 2 more genes
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