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Items: 1 to 20 of 155

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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
    nsv6667879copy number variation1nstd229human GRCh38 chr1: 226,665,497-226,667,967 , GRCh37.p13 chr1: 226,853,198-226,855,668 ITPKB-IT1, ITPKB
    nsv6662764copy number variation1nstd229human GRCh38 chr1: 226,655,876-226,657,863 , GRCh37.p13 chr1: 226,843,577-226,845,564 ITPKB, ITPKB-IT1
    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
    nsv6541038inversion1nstd223human GRCh38 chr1: 226,669,142-226,669,947 , GRCh37.p13 chr1: 226,856,843-226,857,648 ITPKB-IT1, ITPKB
    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
    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
    nsv6240908mobile element insertion1nstd215human GRCh38 chr1: 226,670,204-226,670,204 , GRCh37.p13 chr1: 226,857,905-226,857,905 ITPKB, ITPKB-IT1
    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
    nsv6133862copy number variation1nstd213human GRCh37 chr1: 226,360,000-227,650,001 , GRCh38.p12 chr1: 226,172,299-227,462,300 CDKN2AIPNLP1, LOC100418874, 27 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
    nsv6133646copy number variation1nstd213human GRCh37 chr1: 226,280,000-228,400,001 , GRCh38.p12 chr1: 226,092,299-228,212,300 MRPL55, LIN9, 62 more genes
    nsv6058472insertion1nstd212human GRCh38 chr1: 226,654,952-226,654,952 , GRCh37.p13 chr1: 226,842,653-226,842,653 ITPKB, ITPKB-IT1
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5675975mobile element insertion1nstd211human GRCh38 chr1: 226,668,494-226,668,494 , GRCh37.p13 chr1: 226,856,195-226,856,195 ITPKB, ITPKB-IT1
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