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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7052462inversion1nstd229human GRCh38 chr1: 219,653,745-221,511,784 , GRCh37.p13 chr1: 219,827,087-221,685,126 RNA5SP76, MIR215, 36 more genes
    nsv6671035copy number variation1nstd229human GRCh38 chr1: 220,822,448-220,828,041 , GRCh37.p13 chr1: 220,995,790-221,001,383 LINC01352, RNU6ATAC35P
    nsv6670664copy number variation1nstd229human GRCh38 chr1: 220,830,472-220,913,424 , GRCh37.p13 chr1: 221,003,814-221,086,766 HLX, LINC01352, 1 more genes
    nsv6661898copy number variation1nstd229human GRCh38 chr1: 220,757,404-220,848,174 , GRCh37.p13 chr1: 220,930,746-221,021,516 HLX-AS1, LINC01352, 3 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6540195inversion1nstd223human GRCh38 chr1: 216,397,966-226,054,144 , GRCh37.p13 chr1: 216,571,308-226,241,845 LOC105373046, CNIH3-AS1, 154 more genes
    nsv6290569copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,199,578-223,035,427 , GRCh38.p12 chr1: 215,026,235-222,862,085 SPATA17, BROX, 97 more genes
    nsv6133857copy number variation1nstd213human GRCh37 chr1: 215,920,000-223,130,001 , GRCh38.p12 chr1: 215,746,658-222,956,659 BPNT1, HHIPL2, 95 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674721copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,734,913-224,104,993 , GRCh38.p12 chr1: 219,561,571-223,917,291 PRELID3BP1, RNU6-403P, 82 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4580667copy number variation1nstd183human GRCh37 chr1: 220,368,291-221,357,283 , GRCh38.p12 chr1: 220,194,949-221,183,941 , MARK1, 23 more genes
    nsv4452084copy number variation1nstd102humanUncertain significance GRCh37 chr1: 219,379,258-222,049,547 , GRCh38.p12 chr1: 219,205,916-221,876,205 RNU6-403P, RPS15AP12, 46 more genes
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