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Items: 1 to 20 of 4033

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3871867copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh38 chr1: 39,428,731-39,468,327 , GRCh37 chr1: 39,894,403-39,933,999 MACF1
    nsv4456715copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 135,710,693-135,735,779 , GRCh38.p12 chr6: 135,389,555-135,414,641 AHI1
    nsv4683665copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr2: 47,690,160-47,702,419 , GRCh38.p12 chr2: 47,463,021-47,475,280 MSH2
    nsv4681596copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr3: 121,491,404-121,500,721 , GRCh38.p12 chr3: 121,772,557-121,781,874 IQCB1
    nsv5673123copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr17: 41,215,330-41,223,340 , GRCh38.p12 chr17: 43,063,313-43,071,323 BRCA1
    nsv4683741copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 73,959,220-73,965,505 , GRCh38.p12 chrX: 74,739,385-74,745,670 NEXMIF
    nsv4716479copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh37 chr16: 14,017,229-14,022,884 , GRCh38 chr16: 13,923,372-13,929,027 ERCC4
    nsv1398616copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh37 chr1: 215,844,314-215,848,958 , GRCh38 chr1: 215,670,972-215,675,616 USH2A
    nsv3878595copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr12: 102,917,538-102,921,296 , GRCh37 chr12: 103,311,316-103,315,074 PAH
    nsv4452496copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr7: 66,091,986-66,092,932 , GRCh37 chr7: 65,556,973-65,557,919 ASL
    nsv4451991copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr21: 35,048,832-35,049,298 , GRCh37.p13 chr21: 36,421,129-36,421,595 RUNX1
    nsv4684207copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr13: 32,893,211-32,893,459 , GRCh38 chr13: 32,319,074-32,319,322 BRCA2
    nsv4682492copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 64,940,485-64,940,717 , GRCh38.p12 chr6: 64,230,592-64,230,824 EYS
    nsv4681175copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr10: 89,711,865-89,712,026 , GRCh38.p12 chr10: 87,952,108-87,952,269 , GRCh38.p12 chr10|NW_013171807.1: 167,897-168,058 PTEN
    nsv6310782copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr1: 216,011,313-216,011,465 , GRCh38.p12 chr1: 215,837,971-215,838,123 USH2A
    nsv6309194copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr11: 34,969,033-34,969,173 , GRCh38.p12 chr11: 34,947,486-34,947,626 PDHX
    nsv4681085copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr17: 41,209,048-41,209,172 , GRCh38.p12 chr17: 43,057,031-43,057,155 BRCA1
    nsv4681238copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 31,854,825-31,986,641 , GRCh38.p12 chrX: 31,836,708-31,968,524 DMD
    nsv6312378copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr8: 100,108,530-100,182,401 , GRCh38.p12 chr8: 99,096,302-99,170,173 VPS13B
    nsv4683386copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr2: 47,630,252-47,643,578 , GRCh38.p12 chr2: 47,403,113-47,416,439 MSH2
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