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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7050586inversion1nstd229human GRCh38 chr1: 39,954,232-39,954,315 , GRCh37.p13 chr1: 40,419,904-40,419,987 MFSD2A
    nsv6649799copy number variation1nstd229human GRCh38 chr1: 39,934,284-39,963,901 , GRCh37.p13 chr1: 40,399,956-40,429,573 MFSD2A, RPS2P12
    nsv6649663copy number variation1nstd229human GRCh38 chr1: 39,966,439-39,966,547 , GRCh37.p13 chr1: 40,432,111-40,432,219 MFSD2A
    nsv6322397copy number variation1nstd223human GRCh38 chr1: 39,951,776-39,953,179 , GRCh37.p13 chr1: 40,417,448-40,418,851 MFSD2A
    nsv6315149copy number variation1nstd102humanPathogenic GRCh38 chr1: 39,968,600-39,968,649 , GRCh37 chr1: 40,434,272-40,434,321 MFSD2A
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5216921copy number variation1nstd204human GRCh38.p13 chr1: 39,956,901-39,964,300 , GRCh37.p13 chr1: 40,422,573-40,429,972 MFSD2A, RPS2P12
    nsv4906076copy number variation1nstd200human GRCh38 chr1: 39,969,808-39,969,875 , GRCh37.p13 chr1: 40,435,480-40,435,547 MFSD2A
    nsv4906075copy number variation1nstd200human GRCh38 chr1: 39,951,788-39,953,157 , GRCh37.p13 chr1: 40,417,460-40,418,829 MFSD2A
    nsv4773188copy number variation1nstd200human GRCh37 chr1: 40,417,470-40,418,830 , GRCh38.p12 chr1: 39,951,798-39,953,158 MFSD2A
    nsv4769331copy number variation1nstd102humanUncertain significance GRCh37 chr1: 39,340,597-40,603,856 , GRCh38.p12 chr1: 38,874,925-40,138,184 GJA9, BMP8B, 39 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4516791copy number variation1nstd166human GRCh37.p13 chr1: 40,417,487-40,418,851 , GRCh38.p12 chr1: 39,951,815-39,953,179 MFSD2A
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
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