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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5967951inversion1nstd209human GRCh38 chr16: 13,469,401-22,726,308 , GRCh37.p13 chr16: 13,563,258-22,737,629 , ABCC6, 214 more genes
    nsv5306689copy number variation1nstd204human GRCh37.p13 chr16: 19,562,226-19,566,850 , GRCh38.p13 chr16: 19,550,904-19,555,528 VPS35L, CCP110
    nsv5272207copy number variation1nstd204human GRCh38.p13 chr16: 19,550,848-19,555,786 , GRCh37.p13 chr16: 19,562,170-19,567,108 CCP110, VPS35L
    nsv5265458copy number variation1nstd204human GRCh38.p13 chr16: 19,549,701-19,556,700 , GRCh37.p13 chr16: 19,561,023-19,568,022 VPS35L, CCP110
    nsv5003069copy number variation1nstd200human GRCh38 chr16: 19,553,757-19,553,965 , GRCh37.p13 chr16: 19,565,079-19,565,287 CCP110, VPS35L
    nsv4850647copy number variation1nstd200human GRCh37 chr16: 19,562,232-19,566,848 , GRCh38.p12 chr16: 19,550,910-19,555,526 VPS35L, CCP110
    nsv4850646copy number variation1nstd200human GRCh37 chr16: 19,552,562-19,552,904 , GRCh38.p12 chr16: 19,541,240-19,541,582 CCP110
    nsv4729901copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,959,279-30,190,593 , GRCh38.p12 chr16: 2,909,278-30,179,272 NPIPB9, TMEM219, 597 more genes
    nsv4685985copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,805,001-34,230,001 , GRCh38.p12 chr16: 5,755,000-34,995,630 LOC105371069, PKD1P6-NPIPP1, 654 more genes
    nsv4577270mobile element insertion1nstd166human GRCh37.p13 chr16: 19,544,225-19,544,225 , GRCh38.p12 chr16: 19,532,903-19,532,903 CCP110
    nsv4436312complex substitution1nstd102humanPathogenic GRCh38.p12 chr16: 1,230,041-33,908,091 , GRCh37 chr16: 1,280,042-33,710,558 ABAT, ABCA3, 876 more genes
    nsv4381820copy number variation1nstd173human GRCh37 chr16: 19,183,781-19,725,130 , GRCh38.p12 chr16: 19,172,459-19,713,808 LOC105371114, KNOP1, 8 more genes
    nsv4322553inversion1nstd166human GRCh37.p13 chr16: 16,634,964-31,736,102 , GRCh38.p12 chr16: 16,541,107-31,724,781 , ALDOA, 403 more genes
    nsv4315196insertion1nstd166human GRCh37.p13 chr16: 19,563,554-19,563,554 , GRCh38.p12 chr16: 19,552,232-19,552,232 CCP110
    nsv4233121copy number variation1nstd166human GRCh37.p13 chr16: 19,565,079-19,565,287 , GRCh38.p12 chr16: 19,553,757-19,553,965 VPS35L, CCP110
    nsv3917409copy number variation1nstd102humanPathogenic NCBI36 chr16: 14,956,252-28,225,665 , GRCh37 chr16: 15,048,751-28,318,164 , GRCh38 chr16: 14,954,894-28,306,843 SLC7A5P2, TRL-TAG3-1, 251 more genes
    nsv3910441copy number variation1nstd102humanPathogenic NCBI36 chr16: 4,634,894-29,089,642 , GRCh37 chr16: 4,694,893-29,182,141 , GRCh38 chr16: 4,644,892-29,170,820 LOC729945, LOC102723728, 450 more genes
    nsv3909417copy number variation1nstd102humanPathogenic GRCh37 chr16: 88,165-90,163,275 , GRCh38.p12 chr16: 38,165-90,096,867 PRSS53, LINC02134, 1868 more genes
    nsv3906108copy number variation1nstd102humanPathogenic GRCh37 chr16: 61,451-90,294,632 , GRCh38.p12 chr16: 11,451-90,228,224 CKLF, NPIPP1, 1882 more genes
    nsv3904593copy number variation1nstd102humanPathogenic GRCh37 chr16: 69,193-90,274,381 , GRCh38.p12 chr16: 19,193-90,207,973 LOC100128079, LOC105379474, 1879 more genes
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