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Items: 1 to 20 of 241

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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
    nsv6677962copy number variation1nstd229human GRCh38 chr1: 223,635,121-223,764,260 , GRCh37.p13 chr1: 223,822,823-223,951,962 CAPN2, LOC105373046, 4 more genes
    nsv6660727copy number variation1nstd229human GRCh38 chr1: 223,685,413-223,707,172 , GRCh37.p13 chr1: 223,873,115-223,894,874 LOC105373281, RNU6-1248P, 1 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
    nsv6636736copy number variation1nstd102humanUncertain significance GRCh37 chr1: 221,325,488-225,804,228 , GRCh38.p12 chr1: 221,152,146-225,616,526 BROX, LINC02765, 77 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
    nsv6549220inversion1nstd223human GRCh38 chr1: 223,692,687-223,693,283 , GRCh37.p13 chr1: 223,880,389-223,880,985 LOC105373281
    nsv6540195inversion1nstd223human GRCh38 chr1: 216,397,966-226,054,144 , GRCh37.p13 chr1: 216,571,308-226,241,845 LOC105373046, CNIH3-AS1, 154 more genes
    nsv6327454copy number variation1nstd223human GRCh38 chr1: 223,690,646-223,691,829 , GRCh37.p13 chr1: 223,878,348-223,879,531 LOC105373281
    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
    nsv6323121copy number variation1nstd223human GRCh38 chr1: 223,696,098-223,736,128 , GRCh37.p13 chr1: 223,883,800-223,923,830 CAPN2, LOC105373281
    nsv6321194copy number variation1nstd223human GRCh38 chr1: 223,650,408-223,846,185 , GRCh37.p13 chr1: 223,838,110-224,033,887 CAPN2, TP53BP2, 5 more genes
    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
    nsv6258610mobile element insertion1nstd215human GRCh38 chr1: 223,708,232-223,708,232 , GRCh37.p13 chr1: 223,895,934-223,895,934 CAPN2, LOC105373281
    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
    nsv6133644copy number variation1nstd213human GRCh37 chr1: 223,720,000-223,990,001 , GRCh38.p12 chr1: 223,546,635-223,802,299 CAPN2, TP53BP2, 6 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
    nsv5685941mobile element insertion1nstd211human GRCh38 chr1: 223,708,232-223,708,232 , GRCh37.p13 chr1: 223,895,934-223,895,934 LOC105373281, CAPN2
    nsv5404196mobile element insertion1nstd206human GRCh38 chr1: 223,708,232-223,708,283 , GRCh37.p13 chr1: 223,895,934-223,895,985 LOC105373281, CAPN2
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