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Items: 1 to 20 of 92

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv5524038copy number variation1nstd206human GRCh38 chr20: 59,002,601-59,003,275 , GRCh37.p13 chr20: 57,577,656-57,578,330 CTSZ
    nsv5324622copy number variation1nstd204human GRCh38.p13 chr20: 59,001,083-59,005,653 , GRCh37.p13 chr20: 57,576,138-57,580,708 CTSZ
    nsv5291138copy number variation1nstd204human GRCh38.p13 chr20: 59,000,901-59,005,100 , GRCh37.p13 chr20: 57,575,956-57,580,155 CTSZ
    nsv5289413copy number variation1nstd204human GRCh38.p13 chr20: 59,000,705-59,005,700 , GRCh37.p13 chr20: 57,575,760-57,580,755 CTSZ
    nsv5161599mobile element insertion1nstd203human GRCh38 chr20: 58,999,825-58,999,843 , GRCh37.p13 chr20: 57,574,880-57,574,898 CTSZ
    nsv4777610mobile element deletion1nstd200human GRCh37 chr20: 57,574,850-57,575,136 , GRCh38.p12 chr20: 58,999,795-59,000,081 CTSZ
    nsv4676332copy number variation1nstd102humanPathogenic GRCh37 chr20: 55,743,522-62,032,989 , GRCh38.p12 chr20: 57,168,466-63,401,636 BMP7, MIR298, 153 more genes
    nsv4676181copy number variation1nstd102humanPathogenic GRCh37 chr20: 56,788,101-62,762,405 , GRCh38.p12 chr20: 58,213,045-64,131,052 LOC105372697, MIR647, 174 more genes
    nsv4629796copy number variation1nstd183human GRCh37 chr20: 57,547,945-57,572,839 , GRCh38.p12 chr20: 58,972,890-58,997,784 NELFCD, CTSZ
    nsv4357849copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,143,747-62,194,881 , GRCh38.p12 chr20: 55,568,689-63,563,528 RBM38, LAMA5, 192 more genes
    nsv4289456copy number variation1nstd166human GRCh37.p13 chr20: 57,578,728-57,601,230 , GRCh38.p12 chr20: 59,003,673-59,026,175 CTSZ, TUBB1, 1 more genes
    nsv4287972copy number variation1nstd166human GRCh37.p13 chr20: 57,569,803-57,569,855 , GRCh38.p12 chr20: 58,994,748-58,994,800 NELFCD, CTSZ
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 FTLP1, RNA5SP487, 472 more genes
    nsv3912982copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 53,639,062-58,949,658 , GRCh37 chr20: 54,220,678-59,516,263 , GRCh38 chr20: 55,630,597-60,941,207 ATP5F1E, BMP7, 103 more genes
    nsv3911673copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,773,088-62,908,674 , NCBI36 chr20: 54,206,495-62,379,118 , GRCh38 chr20: 56,198,032-64,277,321 LOC105372709, NPBWR2, 226 more genes
    nsv3910818copy number variation1nstd102humanUncertain significance NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167 RNA5SP481, LOC105372625, 855 more genes
    nsv3910223copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 51,286,111-62,385,999 , GRCh37 chr20: 51,852,704-62,915,555 , GRCh38 chr20: 53,236,165-64,284,202 ATP5F1E, BMP7, 253 more genes
    nsv3910216copy number variation1nstd102humanPathogenic GRCh37 chr20: 55,804,471-62,904,442 , NCBI36 chr20: 55,237,878-62,374,886 , GRCh38 chr20: 57,229,415-64,273,089 GID8, LOC105372708, 204 more genes
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