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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7142243insertion1nstd232human GRCh37.p13 chr1: 149,879,763-149,879,763 , GRCh38.p12 chr1: 149,908,211-149,908,211 SV2A
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv7053090inversion1nstd229human GRCh37.p13 chr1|NW_003871055.3: 6,699,566-6,791,335 , GRCh38 chr1: 149,884,153-149,975,922 , GRCh37.p13 chr1: 149,855,703-149,947,853 H2BC21, MTMR11, 6 more genes
    nsv6133732copy number variation1nstd213human GRCh37 chr1: 149,750,000-153,310,001 , GRCh38.p12 chr1: 149,778,444-153,337,525 , CTSK, 183 more genes
    nsv6133499copy number variation1nstd213human GRCh37 chr1: 149,880,000-153,720,001 , GRCh38.p12 chr1: 149,908,448-153,747,525 , CTSK, 198 more genes
    nsv5613521insertion1nstd207human GRCh38 chr1: 149,904,818-149,904,818 , GRCh37.p13 chr1|NW_003871055.3: 6,720,231-6,720,231 , GRCh37.p13 chr1: 149,876,370-149,876,370 SV2A
    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
    nsv5296416copy number variation1nstd204human GRCh37.p13 chr1|NW_003871055.3: 6,716,695-6,716,781 , GRCh37.p13 chr1: 149,872,835-149,872,921 , GRCh38.p13 chr1: 149,901,282-149,901,368 SV2A, BOLA1
    nsv4773944copy number variation1nstd200human GRCh37 chr1: 149,874,128-149,874,521 , GRCh38.p12 chr1: 149,902,576-149,902,969 SV2A
    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
    nsv4579554copy number variation1nstd183human GRCh37 chr1: 149,850,351-149,930,852 , GRCh38.p12 chr1: 149,878,801-149,958,935 H2AC20, H2BC21, 6 more genes
    nsv4562878mobile element insertion1nstd166human GRCh37.p13 chr1: 149,887,187-149,887,187 , GRCh38.p12 chr1: 149,915,635-149,915,635 SV2A
    nsv4067604copy number variation1nstd166human GRCh37.p13 chr1: 149,874,129-149,874,521 , GRCh38.p12 chr1: 149,902,577-149,902,969 SV2A
    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
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884446copy number variation1nstd102humanUncertain significance GRCh37 chr1: 149,802,401-149,944,241 , GRCh38.p12 chr1: 149,830,837-149,972,313 H3C14, H2AC21, 14 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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