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Items: 1 to 20 of 76

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7049500inversion1nstd229human GRCh38 chr2: 3,572,568-6,665,412 , GRCh37.p13 chr2: 3,620,158-6,805,544 LOC105373393, LOC112268411, 33 more genes
    nsv7046036inversion1nstd229human GRCh38 chr2: 3,570,134-6,661,034 , GRCh37.p13 chr2: 3,617,724-6,801,166 MIR7515, LOC112268411, 33 more genes
    nsv7044096inversion1nstd229human GRCh38 chr2: 5,896,641-9,131,731 , GRCh37.p13 chr2: 6,036,773-9,271,860 LOC105373407, LOC107985847, 48 more genes
    nsv6673429copy number variation1nstd229human GRCh38 chr2: 5,768,801-6,193,800 , GRCh37.p13 chr2: 5,908,933-6,333,932 MIR7158, LOC400940, 2 more genes
    nsv6669969copy number variation1nstd229human GRCh38 chr2: 5,934,036-5,981,588 , GRCh37.p13 chr2: 6,074,168-6,121,720 SILC1, MIR7158, 1 more genes
    nsv6667857copy number variation1nstd229human GRCh38 chr2: 5,977,514-5,980,887 , GRCh37.p13 chr2: 6,117,646-6,121,019 LOC400940, SILC1
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315215copy number variation1nstd102humanLikely pathogenic GRCh38 chr2: 5,853,982-6,200,592 , GRCh37.p13 chr2: 5,994,114-6,340,724 SILC1, LOC400940, 1 more genes
    nsv6313839copy number variation1nstd102humanPathogenic GRCh37 chr2: 5,449,964-6,357,647 , GRCh38.p12 chr2: 5,309,831-6,217,515 MIR7158, LINC01810, 8 more genes
    nsv6160563copy number variation1nstd214human GRCh38 chr2: 5,987,876-5,987,932 , GRCh37.p13 chr2: 6,128,008-6,128,064 LOC400940
    nsv6148210copy number variation1nstd214human GRCh38 chr2: 5,988,117-5,988,173 , GRCh37.p13 chr2: 6,128,249-6,128,305 LOC400940
    nsv6043610insertion1nstd212human GRCh38 chr2: 5,988,111-5,988,111 , GRCh37.p13 chr2: 6,128,243-6,128,243 LOC400940
    nsv5868253copy number variation1nstd209human GRCh38 chr2: 5,988,117-5,988,173 , GRCh37.p13 chr2: 6,128,249-6,128,305 LOC400940
    nsv5565104copy number variation1nstd207human GRCh38 chr2: 5,988,117-5,988,173 , GRCh37.p13 chr2: 6,128,249-6,128,305 LOC400940
    nsv4892181copy number variation1nstd200human GRCh38 chr2: 5,988,315-5,989,960 , GRCh37.p13 chr2: 6,128,447-6,130,092 LOC400940
    nsv4770061copy number variation1nstd200human GRCh37 chr2: 6,128,447-6,130,092 , GRCh38.p12 chr2: 5,988,315-5,989,960 LOC400940
    nsv4454966copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,770-7,502,796 , GRCh38.p12 chr2: 12,770-7,362,665 LINC01810, ADI1, 83 more genes
    nsv3958470insertion1nstd168human GRCh38 chr2: 5,941,475-5,981,338 , GRCh37.p13 chr2: 6,081,607-6,121,470 SILC1, LOC400940, 1 more genes
    nsv3909560copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 4,442,179-7,690,419 , GRCh37 chr2: 4,464,304-7,772,968 , GRCh38 chr2: 4,416,714-7,632,837 SOX11, RNF144A, 36 more genes
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