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Items: 1 to 20 of 171

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5962386insertion1nstd209human GRCh38 chr1: 68,472,342-68,472,342 , GRCh37.p13 chr1: 68,938,025-68,938,025 DEPDC1
    nsv5679027mobile element insertion2nstd211human GRCh38 chr1: 68,488,147-68,488,147 , GRCh37.p13 chr1: 68,953,830-68,953,830 DEPDC1
    nsv5412925mobile element insertion1nstd206human GRCh38 chr1: 68,488,147-68,488,198 , GRCh37.p13 chr1: 68,953,830-68,953,881 DEPDC1
    nsv5367474translocation1nstd200human GRCh38 chr18: 55,075,629-55,075,629 , GRCh38 chr1: 68,476,500-68,476,500 , GRCh37.p13 chr1: 68,942,183-68,942,183 , GRCh37.p13 chr18: 52,742,860-52,742,860 DEPDC1
    nsv5352875translocation1nstd200human GRCh38 chr1: 68,488,459-68,488,459 , GRCh38 chr1: 68,487,897-68,487,897 , GRCh37.p13 chr1: 68,953,580-68,953,580 , GRCh37.p13 chr1: 68,954,142-68,954,142 DEPDC1
    nsv5327118translocation1nstd204human GRCh38.p13 chr1: 68,475,578-68,475,578 , GRCh38.p13 chr18: 55,075,640-55,075,640 , GRCh37.p13 chr1: 68,941,261-68,941,261 , GRCh37.p13 chr18: 52,742,871-52,742,871 DEPDC1
    nsv5216620copy number variation1nstd204human GRCh38.p13 chr1: 68,486,301-68,489,700 , GRCh37.p13 chr1: 68,951,984-68,955,383 DEPDC1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    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
    nsv4682541copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,903,870-68,949,773 , GRCh38.p12 chr1: 68,438,187-68,484,090 RPE65, DEPDC1
    nsv4673984copy number variation1nstd102humanUncertain significance GRCh37 chr1: 68,362,723-69,625,048 , GRCh38.p12 chr1: 67,897,040-69,159,365 DIRAS3, ARL5AP3, 16 more genes
    nsv4594638copy number variation1nstd183human GRCh37 chr1: 68,960,384-68,962,572 , GRCh38.p12 chr1: 68,494,701-68,496,889 DEPDC1, DEPDC1-AS1
    nsv4454000copy number variation1nstd102humanPathogenic GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657 NEXN, LOC107985391, 209 more genes
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 more genes
    nsv4449847copy number variation1nstd102humanPathogenic GRCh37 chr1: 66,868,168-77,106,425 , GRCh38.p12 chr1: 66,402,485-76,640,740 GNG12-AS1, C1orf141, 118 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4329469inversion1nstd166human GRCh37.p13 chr1: 67,732,337-71,589,227 , GRCh38.p12 chr1: 67,266,654-71,123,544 , GADD45A, 61 more genes
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