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Items: 1 to 20 of 183

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099264copy number variation1nstd231human GRCh38.p12 chr1: 222,151,895-226,849,338 , GRCh37 chr1: 222,325,237-227,037,039 PARP1, CAPN2, 99 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7054253inversion1nstd229human GRCh38 chr1: 225,921,423-226,427,421 , GRCh37.p13 chr1: 226,109,123-226,615,122 H3-3A, ACBD3, 15 more genes
    nsv7053157inversion1nstd229human GRCh38 chr1: 225,921,281-226,429,584 , GRCh37.p13 chr1: 226,108,981-226,617,285 RPL34P7, YBX1P9, 15 more genes
    nsv6673259copy number variation1nstd229human GRCh38 chr1: 226,070,501-226,079,200 , GRCh37.p13 chr1: 226,258,202-226,266,901 H3-3A
    nsv6664841copy number variation1nstd229human GRCh38 chr1: 226,072,031-226,072,181 , GRCh37.p13 chr1: 226,259,732-226,259,882 H3-3A
    nsv6659303copy number variation1nstd229human GRCh38 chr1: 226,051,901-226,152,000 , GRCh37.p13 chr1: 226,239,602-226,339,701 ACBD3, H3-3A, 3 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6324615copy number variation1nstd223human GRCh38 chr1: 221,964,560-227,275,239 , GRCh37.p13 chr1: 222,137,902-227,462,940 LEFTY2, HHIPL2, 109 more genes
    nsv6318273copy number variation1nstd223human GRCh38 chr1: 226,070,498-226,077,388 , GRCh37.p13 chr1: 226,258,199-226,265,089 H3-3A
    nsv6313779copy number variation1nstd102humanPathogenic GRCh37 chr1: 221,303,919-227,461,343 , GRCh38.p12 chr1: 221,130,577-227,273,642 ENAH, HHIPL2, 119 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
    nsv6310858copy number variation1nstd102humanUncertain significance GRCh37 chr1: 225,591,005-227,174,438 , GRCh38.p12 chr1: 225,403,303-226,986,737 ACBD3, H3-3A, 39 more genes
    nsv6133981copy number variation1nstd213human GRCh37 chr1: 223,800,000-235,190,001 , GRCh38.p12 chr1: 223,612,298-235,054,254 AGT, H3-3A, 273 more genes
    nsv6133760copy number variation1nstd213human GRCh37 chr1: 223,800,000-227,830,001 , GRCh38.p12 chr1: 223,612,298-227,642,300 PARP1, LBR, 92 more genes
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5878765copy number variation1nstd209human GRCh38 chr1: 226,070,512-226,077,298 , GRCh37.p13 chr1: 226,258,213-226,264,999 H3-3A
    nsv5829464copy number variation1nstd209human GRCh38 chr1: 226,070,768-226,077,033 , GRCh37.p13 chr1: 226,258,469-226,264,734 H3-3A
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