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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv6650471copy number variation1nstd229human GRCh38 chr1: 44,806,366-44,810,386 , GRCh37.p13 chr1: 45,272,038-45,276,058 PLK3, BTBD19, 1 more genes
    nsv6650470copy number variation1nstd229human GRCh38 chr1: 44,801,425-44,805,241 , GRCh37.p13 chr1: 45,267,097-45,270,913 DYNLT4, PLK3
    nsv6315968copy number variation1nstd223human GRCh38 chr1: 44,796,801-44,835,100 , GRCh37.p13 chr1: 45,262,473-45,300,772 PLK3, BTBD19, 4 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    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
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 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
    nsv4679182copy number variation1nstd189human GRCh37.p13 chr1: 44,966,524-45,765,102 , GRCh38.p12 chr1: 44,500,852-45,299,430 PLK3, RPS8, 32 more genes
    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
    nsv4050814copy number variation1nstd166human GRCh37.p13 chr1: 44,473,602-45,303,007 , GRCh38.p12 chr1: 44,007,930-44,837,335 , LOC107984952, 38 more genes
    nsv3904737copy number variation1nstd102humanUncertain significance GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571 LOC105378690, RPS15AP11, 26 more genes
    nsv3903595copy number variation1nstd102humanUncertain significance GRCh38 chr1: 43,896,056-44,867,736 , NCBI36 chr1: 44,134,315-45,105,995 , GRCh37 chr1: 44,361,728-45,333,408 SNORD145, DMAP1, 47 more genes
    nsv3889018copy number variation1nstd102humanBenign GRCh37 chr1: 45,237,119-45,287,094 , GRCh38.p12 chr1: 44,771,447-44,821,422 LOC107984952, SNORD38B, 11 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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