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Items: 1 to 20 of 930

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137094copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 44,949,883-46,507,482 , GRCh38.p12 chr17: 46,872,517-48,430,120 CDC27, ITGB3, 49 more genes
    nsv7077934inversion1nstd229human GRCh38 chr17: 48,374,038-48,388,369 , GRCh37.p13 chr17: 46,451,400-46,465,731 SKAP1
    nsv7076102inversion1nstd229human GRCh38 chr17: 48,183,199-48,183,260 , GRCh37.p13 chr17: 46,260,561-46,260,622 SKAP1
    nsv7061470inversion1nstd229human GRCh38 chr17: 48,388,261-48,392,380 , GRCh37.p13 chr17: 46,465,623-46,469,742 SKAP1
    nsv6998066copy number variation1nstd229human GRCh38 chr17: 48,413,199-48,424,519 , GRCh37.p13 chr17: 46,490,561-46,501,881 SKAP1
    nsv6995467copy number variation1nstd229human GRCh38 chr17: 48,241,151-48,241,332 , GRCh37.p13 chr17: 46,318,513-46,318,694 SKAP1
    nsv6994982copy number variation1nstd229human GRCh38 chr17: 48,212,283-48,212,485 , GRCh37.p13 chr17: 46,289,645-46,289,847 SKAP1, LSM3P1
    nsv6993712copy number variation1nstd229human GRCh38 chr17: 48,322,901-48,325,100 , GRCh37.p13 chr17: 46,400,263-46,402,462 SKAP1
    nsv6993672copy number variation1nstd229human GRCh38 chr17: 48,351,587-48,351,738 , GRCh37.p13 chr17: 46,428,949-46,429,100 SKAP1
    nsv6991907copy number variation1nstd229human GRCh38 chr17: 48,328,027-48,346,990 , GRCh37.p13 chr17: 46,405,389-46,424,352 SKAP1
    nsv6991623copy number variation1nstd229human GRCh38 chr17: 48,335,070-48,338,291 , GRCh37.p13 chr17: 46,412,432-46,415,653 SKAP1
    nsv6990949copy number variation1nstd229human GRCh38 chr17: 48,322,787-48,325,239 , GRCh37.p13 chr17: 46,400,149-46,402,601 SKAP1
    nsv6990937copy number variation1nstd229human GRCh38 chr17: 48,146,712-48,149,425 , GRCh37.p13 chr17: 46,224,074-46,226,787 SKAP1
    nsv6990285copy number variation1nstd229human GRCh38 chr17: 48,154,579-48,168,439 , GRCh37.p13 chr17: 46,231,941-46,245,801 SKAP1, MIR1203
    nsv6989376copy number variation1nstd229human GRCh38 chr17: 48,321,488-48,321,679 , GRCh37.p13 chr17: 46,398,850-46,399,041 SKAP1
    nsv6987591copy number variation1nstd229human GRCh38 chr17: 48,242,830-48,368,035 , GRCh37.p13 chr17: 46,320,192-46,445,397 SKAP1, SKAP1-AS2
    nsv6986760copy number variation1nstd229human GRCh38 chr17: 48,222,310-48,228,912 , GRCh37.p13 chr17: 46,299,672-46,306,274 SKAP1
    nsv6985288copy number variation1nstd229human GRCh38 chr17: 48,276,917-48,278,490 , GRCh37.p13 chr17: 46,354,279-46,355,852 SKAP1
    nsv6984517copy number variation1nstd229human GRCh38 chr17: 48,416,017-48,425,300 , GRCh37.p13 chr17: 46,493,379-46,502,662 SKAP1
    nsv6983158copy number variation1nstd229human GRCh38 chr17: 48,375,201-48,379,900 , GRCh37.p13 chr17: 46,452,563-46,457,262 SKAP1
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