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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5544793insertion1nstd206human GRCh38 chr2: 127,387,429-127,387,449 , GRCh37.p13 chr2: 128,145,005-128,145,025 MAP3K2-DT, MAP3K2
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4925937copy number variation1nstd200human GRCh38 chr2: 127,396,187-127,397,532 , GRCh37.p13 chr2: 128,153,763-128,155,108 MAP3K2-DT
    nsv4925936copy number variation1nstd200human GRCh38 chr2: 127,390,487-127,395,761 , GRCh37.p13 chr2: 128,148,063-128,153,337 MAP3K2-DT
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4770775copy number variation1nstd200human GRCh37 chr2: 128,148,035-128,153,240 , GRCh38.p12 chr2: 127,390,459-127,395,664 MAP3K2-DT
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4546185insertion1nstd166human GRCh37.p13 chr2: 128,146,036-128,146,036 , GRCh38.p12 chr2: 127,388,460-127,388,460 MAP3K2, MAP3K2-DT
    nsv4077155copy number variation1nstd166human GRCh37.p13 chr2: 128,162,164-128,162,284 , GRCh38.p12 chr2: 127,404,588-127,404,708 MAP3K2-DT
    nsv3970903copy number variation1nstd168human GRCh38 chr2: 127,398,150-127,469,161 , GRCh37.p13 chr2: 128,155,726-128,226,737 LOC105373608, MAP3K2-DT, 2 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3911646copy number variation1nstd102humanUncertain significance NCBI36 chr2: 127,464,379-127,879,916 , GRCh37.p13 chr2: 127,747,909-128,163,446 , GRCh38.p12 chr2: 126,990,333-127,405,870 WBP11P2, LOC105373605, 9 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3908729copy number variation1nstd102humanUncertain significance GRCh37 chr2: 127,820,782-131,285,027 , GRCh38 chr2: 127,063,206-130,527,454 , NCBI36 chr2: 127,537,252-131,001,497 LINC01854, CCDC115, 95 more genes
    nsv3907989copy number variation1nstd102humanPathogenic GRCh38 chr2: 121,824,798-128,870,804 , GRCh37 chr2: 122,582,374-129,628,378 , NCBI36 chr2: 122,298,844-129,344,848 AMMECR1L, UGGT1, 69 more genes
    nsv3901803copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 123,321,402-130,019,624 , GRCh37 chr2: 123,604,932-130,303,154 , GRCh38 chr2: 122,847,356-129,545,581 BIN1, ERCC3, 68 more genes
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