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Items: 1 to 20 of 291

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7095591copy number variation2nstd102humanPathogenic GRCh37 chr1: 230,203,028-231,413,288 , GRCh38.p12 chr1: 230,067,281-231,277,542 CAPN9, TRIM67-AS1, 25 more genes
    nsv7095514copy number variation1nstd102humanPathogenic GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542 NUP133-DT, URB2, 42 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7044357inversion1nstd229human GRCh38 chr1: 230,487,375-232,830,868 , GRCh37.p13 chr1: 230,623,121-232,966,614 ARV1, C1orf131, 51 more genes
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6672588copy number variation1nstd229human GRCh38 chr1: 230,743,278-230,746,521 , GRCh37.p13 chr1: 230,879,024-230,882,267 CAPN9
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6670110copy number variation1nstd229human GRCh38 chr1: 230,723,093-230,747,812 , GRCh37.p13 chr1: 230,858,839-230,883,558 CAPN9
    nsv6668875copy number variation1nstd229human GRCh38 chr1: 230,482,037-231,277,187 , GRCh37.p13 chr1: 230,617,783-231,412,933 LOC644006, C1orf198, 23 more genes
    nsv6668157copy number variation1nstd229human GRCh38 chr1: 230,746,513-230,748,826 , GRCh37.p13 chr1: 230,882,259-230,884,572 CAPN9
    nsv6667537copy number variation1nstd229human GRCh38 chr1: 230,743,243-230,746,556 , GRCh37.p13 chr1: 230,878,989-230,882,302 CAPN9
    nsv6664573copy number variation1nstd229human GRCh38 chr1: 230,770,316-230,773,612 , GRCh37.p13 chr1: 230,906,062-230,909,358 CAPN9
    nsv6664019copy number variation1nstd229human GRCh38 chr1: 230,795,464-230,806,465 , GRCh37.p13 chr1: 230,931,210-230,942,211 CAPN9, LOC107985359
    nsv6663560copy number variation1nstd229human GRCh38 chr1: 230,739,279-230,808,950 , GRCh37.p13 chr1: 230,875,025-230,944,696 CAPN9, LOC107985359
    nsv6662810copy number variation1nstd229human GRCh38 chr1: 230,801,243-230,804,999 , GRCh37.p13 chr1: 230,936,989-230,940,745 CAPN9
    nsv6661509copy number variation1nstd229human GRCh38 chr1: 230,741,626-230,747,966 , GRCh37.p13 chr1: 230,877,372-230,883,712 CAPN9
    nsv6659354copy number variation1nstd229human GRCh38 chr1: 230,800,201-230,801,910 , GRCh37.p13 chr1: 230,935,947-230,937,656 CAPN9
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
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