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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7056996inversion1nstd229human GRCh38 chr2: 227,981,510-227,988,203 , GRCh37.p13 chr2: 228,846,226-228,852,919 SPHKAP, LOC105373918
    nsv7049962inversion1nstd229human GRCh38 chr2: 227,539,172-230,370,061 , GRCh37.p13 chr2: 228,403,888-231,234,776 SPHKAP, TRIP12, 37 more genes
    nsv7048818inversion1nstd229human GRCh38 chr2: 227,979,973-227,986,447 , GRCh37.p13 chr2: 228,844,689-228,851,163 SPHKAP, LOC105373918
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv6696895copy number variation1nstd229human GRCh38 chr2: 227,970,701-227,974,400 , GRCh37.p13 chr2: 228,835,417-228,839,116 LOC105373918
    nsv6693218copy number variation1nstd229human GRCh38 chr2: 227,928,280-228,097,034 , GRCh37.p13 chr2: 228,792,996-228,961,750 SPHKAP, LOC105373918
    nsv6691164copy number variation1nstd229human GRCh38 chr2: 227,953,710-228,003,859 , GRCh37.p13 chr2: 228,818,426-228,868,575 SPHKAP, LOC105373918
    nsv6690684copy number variation1nstd229human GRCh38 chr2: 228,011,802-228,014,782 , GRCh37.p13 chr2: 228,876,518-228,879,498 SPHKAP, LOC105373918
    nsv6687623copy number variation1nstd229human GRCh38 chr2: 227,961,243-227,964,805 , GRCh37.p13 chr2: 228,825,959-228,829,521 LOC105373918
    nsv6686284copy number variation1nstd229human GRCh38 chr2: 228,005,186-228,007,295 , GRCh37.p13 chr2: 228,869,902-228,872,011 LOC105373918, SPHKAP
    nsv6682736copy number variation1nstd229human GRCh38 chr2: 228,038,140-228,047,940 , GRCh37.p13 chr2: 228,902,856-228,912,656 SPHKAP, LOC105373918
    nsv6678700copy number variation1nstd229human GRCh38 chr2: 226,880,942-228,292,097 , GRCh37.p13 chr2: 227,745,658-229,156,813 LOC107985993, LOC100533842, 21 more genes
    nsv6548497inversion1nstd223human GRCh38 chr2: 227,979,973-227,986,448 , GRCh37.p13 chr2: 228,844,689-228,851,164 SPHKAP, LOC105373918
    nsv6546353inversion1nstd223human GRCh38 chr2: 227,539,362-230,369,917 , GRCh37.p13 chr2: 228,404,078-231,234,632 FBXO36, LOC729968, 37 more genes
    nsv6541400inversion1nstd223human GRCh38 chr2: 227,539,172-230,370,025 , GRCh37.p13 chr2: 228,403,888-231,234,740 SNRPGP8, DNER, 37 more genes
    nsv6350445copy number variation1nstd223human GRCh38 chr2: 227,963,109-227,963,564 , GRCh37.p13 chr2: 228,827,825-228,828,280 LOC105373918
    nsv6347324copy number variation1nstd223human GRCh38 chr2: 228,005,186-228,007,294 , GRCh37.p13 chr2: 228,869,902-228,872,010 LOC105373918, SPHKAP
    nsv6340458copy number variation1nstd223human GRCh38 chr2: 227,984,787-227,985,493 , GRCh37.p13 chr2: 228,849,503-228,850,209 SPHKAP, LOC105373918
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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