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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7055902inversion1nstd229human GRCh38 chr1: 36,155,822-36,482,474 , GRCh37.p13 chr1: 36,621,423-36,948,075 UBE2V2P4, RNU4-27P, 13 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6649466copy number variation1nstd229human GRCh38 chr1: 36,062,801-36,545,100 , GRCh37.p13 chr1: 36,528,402-37,010,701 ADPRS, TEKT2, 18 more genes
    nsv6649462copy number variation1nstd229human GRCh38 chr1: 35,975,501-36,714,600 , GRCh37.p13 chr1: 36,441,102-37,180,201 LSM10, LOC105378648, 22 more genes
    nsv6649290copy number variation1nstd229human GRCh38 chr1: 36,113,925-36,364,964 , GRCh37.p13 chr1: 36,579,526-36,830,565 COL8A2, RN7SL131P, 7 more genes
    nsv6648808copy number variation1nstd229human GRCh38 chr1: 36,322,606-36,322,882 , GRCh37.p13 chr1: 36,788,207-36,788,483 EVA1B, SH3D21
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 EFCAB14P1, SNORA63C, 56 more genes
    nsv6318533copy number variation1nstd223human GRCh38 chr1: 36,318,059-36,321,852 , GRCh37.p13 chr1: 36,783,660-36,787,453 EVA1B, SH3D21
    nsv6313765copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,041,366-39,112,237 , GRCh38.p12 chr1: 35,575,765-38,646,565 RNU6-510P, AGO3, 78 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133869copy number variation1nstd213human GRCh37 chr1: 33,400,000-36,950,001 , GRCh38.p12 chr1: 32,934,399-36,484,400 AK2, COL8A2, 77 more genes
    nsv4895976copy number variation1nstd200human GRCh38 chr1: 36,318,059-36,321,852 , GRCh37.p13 chr1: 36,783,660-36,787,453 EVA1B, SH3D21
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4581190copy number variation1nstd183human GRCh37 chr1: 36,678,960-36,787,638 , GRCh38.p12 chr1: 36,213,359-36,322,037 EVA1B, SH3D21, 2 more genes
    nsv4450729copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,496,921-36,829,945 , GRCh38.p12 chr1: 36,031,320-36,364,344 UBE2V2P4, LOC100128093, 11 more genes
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