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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
    nsv7099203copy number variation1nstd231human GRCh38.p12 chr1: 50,773,375-51,331,725 , GRCh37 chr1: 51,239,047-51,797,397 CDKN2C, FAF1, 12 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv7038632inversion1nstd229human GRCh38 chr1: 50,971,987-50,972,190 , GRCh37.p13 chr1: 51,437,659-51,437,862 CDKN2C
    nsv6651372copy number variation1nstd229human GRCh38 chr1: 50,819,076-51,038,483 , GRCh37.p13 chr1: 51,284,748-51,504,155 MRPS6P2, FAF1, 1 more genes
    nsv6651290copy number variation1nstd229human GRCh38 chr1: 50,946,701-50,971,700 , GRCh37.p13 chr1: 51,412,373-51,437,372 CDKN2C, FAF1
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6333723copy number variation1nstd223human GRCh38 chr1: 50,950,601-50,981,400 , GRCh37.p13 chr1: 51,416,273-51,447,072 CDKN2C, FAF1
    nsv6330925copy number variation1nstd223human GRCh38 chr1: 50,947,501-50,992,300 , GRCh37.p13 chr1: 51,413,173-51,457,972 FAF1, CDKN2C
    nsv6325578copy number variation1nstd223human GRCh38 chr1: 50,952,501-50,981,500 , GRCh37.p13 chr1: 51,418,173-51,447,172 CDKN2C, FAF1
    nsv6324839copy number variation1nstd223human GRCh38 chr1: 50,948,401-50,984,800 , GRCh37.p13 chr1: 51,414,073-51,450,472 CDKN2C, FAF1
    nsv6315599copy number variation1nstd223human GRCh38 chr1: 50,819,076-51,038,486 , GRCh37.p13 chr1: 51,284,748-51,504,158 CDKN2C, FAF1, 1 more genes
    nsv6290219copy number variation1nstd102humanUncertain significance GRCh37 chr1: 50,978,798-51,436,870 , GRCh38.p12 chr1: 50,513,126-50,971,198 RNU6-1026P, FAF1, 3 more genes
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv4903481copy number variation1nstd200human GRCh38 chr1: 50,819,076-51,038,486 , GRCh37.p13 chr1: 51,284,748-51,504,158 , CDKN2C, 2 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
    nsv4674547copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,272,184-52,505,405 , GRCh38.p12 chr1: 46,806,512-52,039,733 RAB3B, RN7SL290P, 90 more genes
    nsv4674393copy number variation1nstd102humanUncertain significance GRCh37 chr1: 51,148,897-51,573,845 , GRCh38.p12 chr1: 50,683,225-51,108,173 FAF1, CDKN2C, 5 more genes
    nsv4581229copy number variation1nstd183human GRCh37 chr1: 51,440,067-51,440,198 , GRCh38.p12 chr1: 50,974,395-50,974,526 CDKN2C
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