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Items: 1 to 20 of 45

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094846copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,121,851-5,125,557 , GRCh38.p12 chr16: 5,071,850-5,075,556 ALG1
    nsv6112805copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,129,043-5,129,828 , GRCh38.p12 chr16: 5,079,042-5,079,827 ALG1
    nsv6309910copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,121,851-5,127,555 , GRCh38.p12 chr16: 5,071,850-5,077,554 ALG1
    nsv6310084copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,130,927-5,131,077 , GRCh38.p12 chr16: 5,080,926-5,081,076 ALG1
    nsv6310082copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,121,851-5,134,882 , GRCh38.p12 chr16: 5,071,850-5,084,881 ALG1, EEF2KMT
    nsv6112782copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,121,789-5,133,778 , GRCh38.p12 chr16: 5,071,788-5,083,777 ALG1, EEF2KMT
    nsv3874063copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 5,130,947-5,147,740 , GRCh38 chr16: 5,080,946-5,097,739 ALG1, EEF2KMT
    nsv6310083copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 5,125,369-5,134,882 , GRCh38.p12 chr16: 5,075,368-5,084,881 ALG1, EEF2KMT
    nsv7094847copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,132,540-5,134,882 , GRCh38.p12 chr16: 5,082,539-5,084,881 ALG1, EEF2KMT
    nsv6310007copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,134,731-5,134,882 , GRCh38.p12 chr16: 5,084,730-5,084,881 ALG1, EEF2KMT
    nsv4456530copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,120,096-5,225,217 , GRCh38.p12 chr16: 5,070,095-5,175,216 ALG1, EEF2KMT, 2 more genes
    nsv4456361copy number variation1nstd102humanUncertain significance GRCh37 chr16: 5,107,989-5,186,447 , GRCh38.p12 chr16: 5,057,988-5,136,446 ALG1, C16orf89, 3 more genes
    nsv3912877copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,900,735-7,160,698 , NCBI36 chr16: 2,840,736-7,100,699 , GRCh38 chr16: 2,850,734-7,110,697 ALG1, TRP-CGG1-2, 129 more genes
    nsv3909798copy number variation1nstd102humanPathogenic GRCh37 chr16: 3,146,027-6,362,229 , GRCh38.p12 chr16: 3,096,026-6,312,228 ALG1, LINC01569, 102 more genes
    nsv3906108copy number variation1nstd102humanPathogenic GRCh37 chr16: 61,451-90,294,632 , GRCh38.p12 chr16: 11,451-90,228,224 ALG1, CKLF, 1882 more genes
    nsv3904593copy number variation1nstd102humanPathogenic GRCh37 chr16: 69,193-90,274,381 , GRCh38.p12 chr16: 19,193-90,207,973 ALG1, LOC100128079, 1879 more genes
    nsv3901410copy number variation1nstd102humanPathogenic GRCh37 chr16: 88,165-90,274,695 , GRCh38.p12 chr16: 38,165-90,208,287 ALG1, LINC02175, 1877 more genes
    nsv3909417copy number variation1nstd102humanPathogenic GRCh37 chr16: 88,165-90,163,275 , GRCh38.p12 chr16: 38,165-90,096,867 ALG1, PRSS53, 1868 more genes
    nsv3892266copy number variation2nstd102humanPathogenic GRCh37 chr16: 85,881-90,155,062 , GRCh38.p12 chr16: 35,881-90,088,654 ALG1, FTLP14, 1868 more genes
    nsv1398297copy number variation1nstd102humanPathogenic GRCh37 chr16: 102,839-28,327,676 , GRCh38.p12 chr16: 52,839-28,316,355 ALG1, BMERB1, 701 more genes
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