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Items: 1 to 20 of 133

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4904355copy number variation1nstd200human GRCh38 chr1: 217,814,587-218,303,169 , GRCh37.p13 chr1: 217,987,929-218,476,511 SPATA17, LINC01653, 6 more genes
    nsv4781451copy number variation1nstd200human GRCh37 chr1: 217,987,929-218,476,511 , GRCh38.p12 chr1: 217,814,587-218,303,169 SPATA17, LINC01653, 6 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
    nsv4674362copy number variation1nstd102humanUncertain significance GRCh37 chr1: 217,857,591-218,182,225 , GRCh38.p12 chr1: 217,684,249-218,008,883 SPATA17-AS1, UBBP2, 3 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
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4069920copy number variation1nstd166human GRCh37.p13 chr1: 217,987,895-218,476,478 , GRCh38.p12 chr1: 217,814,553-218,303,136 UBBP2, RRP15, 6 more genes
    nsv4055850copy number variation1nstd166human GRCh37.p13 chr1: 217,281,704-218,206,732 , GRCh38.p12 chr1: 217,108,362-218,033,390 ESRRG, UBBP2, 7 more genes
    nsv3921757copy number variation1nstd102humannot provided NCBI36 chr1: 214,401,568-247,249,719 , GRCh37.p13 chr1: 216,334,945-249,233,096 , GRCh38.p12 chr1: 216,161,603-248,938,897 MTCYBP15, RNU4-77P, 658 more genes
    nsv3913747copy number variation1nstd102humanUncertain significance NCBI36 chr1: 215,950,265-216,279,896 , GRCh37.p13 chr1: 217,883,642-218,213,273 , GRCh38.p12 chr1: 217,710,300-218,039,931 SPATA17-AS1, LOC105372922, 3 more genes
    nsv3909598copy number variation1nstd102humanPathogenic GRCh38 chr1: 217,452,423-218,818,361 , GRCh37 chr1: 217,625,765-218,991,703 , NCBI36 chr1: 215,692,388-217,058,326 RNU1-141P, LOC105372922, 14 more genes
    nsv3906665copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,620,690-222,145,174 , NCBI36 chr1: 213,687,313-220,211,797 , GRCh38 chr1: 215,447,347-221,971,832 UBBP2, LOC107985281, 77 more genes
    nsv3901095copy number variation1nstd102humanPathogenic NCBI36 chr1: 214,758,572-218,067,255 , GRCh38 chr1: 216,518,607-219,827,290 , GRCh37 chr1: 216,691,949-220,000,632 NXNP1, LOC107985461, 27 more genes
    nsv3900411copy number variation1nstd102humanUncertain significance NCBI36 chr1: 214,838,079-216,247,299 , GRCh38 chr1: 216,598,114-218,007,334 , GRCh37 chr1: 216,771,456-218,180,676 SPATA17, LOC107985461, 7 more genes
    nsv3899100copy number variation1nstd102humanUncertain significance NCBI36 chr1: 215,798,890-216,971,967 , GRCh38 chr1: 217,558,925-218,732,002 , GRCh37 chr1: 217,732,267-218,905,344 LINC02869, LOC105372922, 14 more genes
    nsv3898157copy number variation2nstd102humanPathogenic NCBI36 chr1: 213,446,726-220,244,033 , GRCh38 chr1: 215,206,760-222,004,068 , GRCh37 chr1: 215,380,103-222,177,410 LINC01352, LOC105372928, 79 more genes
    nsv3897747copy number variation1nstd102humanPathogenic GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307 RPS18P3, LOC128136, 793 more genes
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