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Items: 1 to 20 of 123

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099243copy number variation1nstd231human GRCh38.p12 chr1: 166,447,236-166,811,834 , GRCh37 chr1: 166,416,473-166,781,071 FMO9P, RPL4P2, 6 more genes
    nsv7041734inversion1nstd229human GRCh38 chr1: 166,263,566-167,062,529 , GRCh37.p13 chr1: 166,232,803-167,031,766 POGK, ILDR2, 16 more genes
    nsv7039884inversion1nstd229human GRCh38 chr1: 159,817,036-167,858,499 , GRCh37.p13 chr1: 159,786,826-167,827,737 TRP-AGG2-1, FCGR2C, 228 more genes
    nsv6540250inversion1nstd223human GRCh38 chr1: 163,441,141-169,028,378 , GRCh37.p13 chr1: 163,410,931-168,997,616 LOC107985452, NMNAT1P2, 96 more genes
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133565copy number variation1nstd213human GRCh37 chr1: 164,310,000-170,640,001 , GRCh38.p12 chr1: 164,340,763-170,670,860 ATP1B1, DPT, 126 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
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 more genes
    nsv4674180copy number variation1nstd102humanUncertain significance GRCh37 chr1: 166,284,108-167,681,975 , GRCh38.p12 chr1: 166,314,871-167,712,738 CNN2P10, LINC01363, 28 more genes
    nsv4453493copy number variation1nstd102humanPathogenic GRCh37 chr1: 163,093,021-168,991,239 , GRCh38.p12 chr1: 163,123,231-169,022,001 RNU6-755P, GCSHP5, 101 more genes
    nsv4453052copy number variation1nstd102humanUncertain significance GRCh37 chr1: 165,989,619-166,951,388 , GRCh38.p12 chr1: 166,020,382-166,982,151 RNA5SP64, RPL4P2, 18 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4053778copy number variation1nstd166human GRCh37.p13 chr1: 166,715,892-166,715,979 , GRCh38.p12 chr1: 166,746,655-166,746,742 RPL4P2
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
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