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Items: 1 to 20 of 210

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673326copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,661,128-241,661,280 , GRCh38.p12 chr1: 241,497,828-241,497,980 FH
    nsv5673171copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,682,881-241,683,022 , GRCh38.p12 chr1: 241,519,581-241,519,722 FH
    nsv5563714sequence alteration1nstd206human GRCh38 chr1: 239,954,099-244,216,818 , GRCh37.p13 chr1: 240,117,399-244,380,120 , CHML, 66 more genes
    nsv5451967copy number variation1nstd206human GRCh38 chr1: 241,515,914-241,516,037 , GRCh37.p13 chr1: 241,679,214-241,679,337 FH
    nsv5381296copy number variation1nstd102humanPathogenic GRCh37 chr1: 240,554,955-247,342,593 , GRCh38.p12 chr1: 240,391,655-247,179,291 RPL6P3, RN7SKP12, 108 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4728675copy number variation1nstd102humanLikely benign GRCh37 chr1: 241,496,526-241,885,359 , GRCh38.p12 chr1: 241,333,226-241,722,057 CHML, RGS7, 4 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4683852copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 241,671,893-241,677,023 , GRCh38.p12 chr1: 241,508,593-241,513,723 FH
    nsv4683518copy number variation2nstd102humanPathogenic GRCh37 chr1: 241,661,118-241,665,880 , GRCh38.p12 chr1: 241,497,818-241,502,580 FH
    nsv4683505copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,661,118-241,675,453 , GRCh38.p12 chr1: 241,497,818-241,512,153 FH
    nsv4683041copy number variation2nstd102humanUncertain significance, Pathogenic GRCh38.p12 chr1: 241,497,828-241,870,961 , GRCh37 chr1: 241,661,128-242,034,263 CHML, FH, 6 more genes
    nsv4682113copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,669,293-241,669,483 , GRCh38.p12 chr1: 241,505,993-241,506,183 FH
    nsv4681734copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr1: 241,680,472-241,683,022 , GRCh38.p12 chr1: 241,517,172-241,519,722 FH
    nsv4681689copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,682,881-241,683,032 , GRCh38.p12 chr1: 241,519,581-241,519,732 FH
    nsv4681470copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,661,108-242,431,558 , GRCh38.p12 chr1: 241,497,808-242,268,256 CHML, EXO1, 16 more genes
    nsv4674515copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,680,265-241,929,583 , GRCh38.p12 chr1: 241,516,965-241,766,281 WDR64, KMO, 3 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4594387copy number variation1nstd183human GRCh37 chr1: 241,647,702-241,730,066 , GRCh38.p12 chr1: 241,484,402-241,566,766 KMO, FH
    nsv4580814copy number variation1nstd183human GRCh37 chr1: 240,048,298-243,410,504 , GRCh38.p12 chr1: 239,884,998-243,247,202 , LOC105373228, 55 more genes
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