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Items: 1 to 20 of 177

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5422648copy number variation1nstd206human GRCh38 chr1: 44,791,960-44,793,597 , GRCh37.p13 chr1: 45,257,632-45,259,269 BEST4
    nsv5414086copy number variation1nstd206human GRCh38 chr1: 44,783,332-44,785,657 , GRCh37.p13 chr1: 45,249,004-45,251,329 BEST4
    nsv5351581translocation1nstd200human GRCh38 chr1: 44,785,657-44,785,657 , GRCh38 chr1: 44,783,332-44,783,332 , GRCh37.p13 chr1: 45,251,329-45,251,329 , GRCh37.p13 chr1: 45,249,004-45,249,004 BEST4
    nsv4906254copy number variation1nstd200human GRCh38 chr1: 44,792,422-44,798,261 , GRCh37.p13 chr1: 45,258,094-45,263,933 BEST4, PLK3
    nsv4906253copy number variation1nstd200human GRCh38 chr1: 44,791,982-44,794,256 , GRCh37.p13 chr1: 45,257,654-45,259,928 BEST4
    nsv4906252copy number variation1nstd200human GRCh38 chr1: 44,787,384-44,791,853 , GRCh37.p13 chr1: 45,253,056-45,257,525 BEST4
    nsv4903424copy number variation1nstd200human GRCh38 chr1: 44,789,499-44,792,144 , GRCh37.p13 chr1: 45,255,171-45,257,816 BEST4
    nsv4903423copy number variation1nstd200human GRCh38 chr1: 44,781,910-44,782,574 , GRCh37.p13 chr1: 45,247,582-45,248,246 BEST4
    nsv4773329copy number variation1nstd200human GRCh37 chr1: 45,258,102-45,263,933 , GRCh38.p12 chr1: 44,792,430-44,798,261 PLK3, BEST4
    nsv4773328copy number variation1nstd200human GRCh37 chr1: 45,255,208-45,257,806 , GRCh38.p12 chr1: 44,789,536-44,792,134 BEST4
    nsv4773327copy number variation1nstd200human GRCh37 chr1: 45,249,004-45,251,329 , GRCh38.p12 chr1: 44,783,332-44,785,657 BEST4
    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
    nsv4660813copy number variation1nstd186human GRCh37 chr1: 45,257,630-45,259,269 , GRCh38.p12 chr1: 44,791,958-44,793,597 BEST4
    nsv4581840copy number variation1nstd183human GRCh37 chr1: 45,257,630-45,259,269 , GRCh38.p12 chr1: 44,791,958-44,793,597 BEST4
    nsv4461219mobile element insertion1nstd166human GRCh37.p13 chr1: 45,258,889-45,258,889 , GRCh38.p12 chr1: 44,793,217-44,793,217 BEST4
    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
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