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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099205copy number variation1nstd231human GRCh38.p12 chr1: 53,166,972-54,495,490 , GRCh37 chr1: 53,632,644-54,961,163 CPT2, DIO1, 32 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651687copy number variation1nstd229human GRCh38 chr1: 53,326,401-53,328,000 , GRCh37.p13 chr1: 53,792,073-53,793,672 LRP8, LRP8-DT
    nsv6651590copy number variation1nstd229human GRCh38 chr1: 53,335,307-53,338,282 , GRCh37.p13 chr1: 53,800,979-53,803,954 LRP8-DT, LOC105378731
    nsv6626033copy number variation1nstd224human GRCh37 chr1: 53,742,723-53,852,469 , GRCh38.p12 chr1: 53,277,051-53,386,797 LOC105378726, LRP8-DT, 3 more genes
    nsv6324218copy number variation1nstd223human GRCh38 chr1: 53,288,901-53,385,619 , GRCh37.p13 chr1: 53,754,573-53,851,291 LRP8-DT, LRP8, 3 more genes
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 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
    nsv4594566copy number variation1nstd183human GRCh37 chr1: 53,756,742-53,851,854 , GRCh38.p12 chr1: 53,291,070-53,386,182 , LRP8, 4 more genes
    nsv4581871copy number variation1nstd183human GRCh37 chr1: 53,793,265-53,794,017 , GRCh38.p12 chr1: 53,327,593-53,328,345 LRP8, LRP8-DT
    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
    nsv4037869copy number variation1nstd166human GRCh37.p13 chr1: 53,787,230-53,827,375 , GRCh38.p12 chr1: 53,321,558-53,361,703 , LRP8, 2 more genes
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
    nsv3896927copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038 DNAI4, LOC105378770, 346 more genes
    nsv3888039copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,370,010-54,017,544 , GRCh38.p12 chr1: 52,904,338-53,551,871 LOC105378731, H3P2, 24 more genes
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