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Items: 1 to 20 of 505397

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685960copy number variation2nstd102humanPathogenic GRCh37 chr2: 47,630,542-47,656,880 , GRCh38.p12 chr2: 47,403,403-47,429,741 MSH2
    nsv3877772copy number variation1nstd102humanPathogenic GRCh38 chr8: 86,667,104-86,675,513 , GRCh37 chr8: 87,679,332-87,687,741 CNGB3
    nsv3882863copy number variation1nstd102humanPathogenic GRCh38 chr12: 47,983,546-47,986,866 , GRCh37 chr12: 48,377,329-48,380,649 COL2A1
    nsv7093052copy number variation1nstd102humanPathogenic GRCh37 chr8: 145,638,780-145,639,772 , GRCh38 chr8: 144,413,396-144,414,388 SLC39A4
    nsv7136969copy number variation1nstd102humanPathogenic GRCh37 chrX: 110,653,301-110,653,993 , GRCh38 chrX: 111,410,073-111,410,765 DCX
    nsv6634620copy number variation1nstd102humanPathogenic GRCh38 chrX: 149,504,059-149,504,211 , GRCh37 chrX: 148,585,589-148,585,741 IDS
    nsv3873715copy number variation1nstd102humanPathogenic GRCh38 chr2: 166,054,638-166,054,766 , GRCh37 chr2: 166,911,148-166,911,276 SCN1A
    nsv3883919copy number variation1nstd102humanPathogenic GRCh37 chr17: 10,533,098-10,533,212 , GRCh38 chr17: 10,629,781-10,629,895 MYH3
    nsv6634602copy number variation1nstd102humanPathogenic GRCh38 chrX: 154,030,600-154,030,699 , GRCh37 chrX: 153,296,051-153,296,150 MECP2
    nsv3881287copy number variation2nstd102humannot provided, Pathogenic GRCh38 chr1: 172,665,642-172,665,725 , GRCh37 chr1: 172,634,782-172,634,865 FASLG
    nsv7093269copy number variation1nstd102humanPathogenic GRCh37 chr5: 92,920,819-92,920,882 , GRCh38 chr5: 93,585,113-93,585,176 NR2F1
    nsv6634534copy number variation1nstd102humanPathogenic GRCh38 chrX: 154,030,612-154,030,667 , GRCh37 chrX: 153,296,063-153,296,118 MECP2
    nsv997178copy number variation1nstd45humanPathogenic GRCh37 chrX: 122,318,096-122,624,766 , GRCh38.p12 chrX: 123,184,243-123,490,915 GRIA3
    nsv3318999copy number variation1nstd45humanPathogenic GRCh37 chrX: 40,944,888-41,095,832 , GRCh38.p12 chrX: 41,085,635-41,236,579 USP9X
    nsv3071861copy number variation1nstd45humanPathogenic GRCh37 chrX: 109,917,084-110,039,286 , GRCh38.p12 chrX: 110,673,856-110,796,058 CHRDL1
    nsv3170336copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 182,924,851-183,038,858 , GRCh37 chr2: 183,789,579-183,903,586 NCKAP1
    nsv997128copy number variation1nstd45humanPathogenic GRCh37 chrX: 53,963,113-54,071,569 , GRCh38.p12 chrX: 53,936,680-54,045,136 PHF8
    nsv997198copy number variation1nstd45humanPathogenic GRCh38.p12 chr12: 65,169,571-65,248,361 , GRCh37 chr12: 65,563,351-65,642,141 LEMD3
    nsv997125copy number variation1nstd45humanPathogenic GRCh37 chrX: 30,671,476-30,749,579 , GRCh38.p12 chrX: 30,653,359-30,731,462 GK
    nsv997226copy number variation1nstd45humanPathogenic GRCh38.p12 chr4: 88,007,647-88,077,779 , GRCh37 chr4: 88,928,799-88,998,931 PKD2
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