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Items: 1 to 20 of 199

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145660insertion1nstd232human GRCh37.p13 chr1: 226,180,704-226,180,704 , GRCh38.p12 chr1: 225,993,003-225,993,003 SDE2
    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
    nsv6674895copy number variation1nstd229human GRCh38 chr1: 225,983,505-225,994,118 , GRCh37.p13 chr1: 226,171,206-226,181,819 SDE2
    nsv6667606copy number variation1nstd229human GRCh38 chr1: 225,976,067-225,981,605 , GRCh37.p13 chr1: 226,163,768-226,169,306 SDE2
    nsv6666330copy number variation1nstd229human GRCh38 chr1: 225,960,532-225,984,139 , GRCh37.p13 chr1: 226,148,232-226,171,840 NDUFA3P3, SDE2
    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
    nsv6540195inversion1nstd223human GRCh38 chr1: 216,397,966-226,054,144 , GRCh37.p13 chr1: 216,571,308-226,241,845 LOC105373046, CNIH3-AS1, 154 more genes
    nsv6539052inversion1nstd223human GRCh38 chr1: 225,997,579-225,997,935 , GRCh37.p13 chr1: 226,185,280-226,185,636 SDE2
    nsv6331488copy number variation1nstd223human GRCh38 chr1: 225,983,499-225,994,117 , GRCh37.p13 chr1: 226,171,200-226,181,818 SDE2
    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
    nsv6319293copy number variation1nstd223human GRCh38 chr1: 225,979,127-225,984,060 , GRCh37.p13 chr1: 226,166,828-226,171,761 SDE2
    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
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