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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6652927copy number variation1nstd229human GRCh38 chr1: 63,715,581-64,005,494 , GRCh37.p13 chr1: 64,181,252-64,471,166 LOC105378771, CFL1P3, 2 more genes
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv6290699copy number variation1nstd102humanUncertain significance GRCh37 chr1: 64,115,978-64,490,352 , GRCh38.p12 chr1: 63,650,307-64,024,680 LOC105378771, PGM1, 4 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
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 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
    nsv3909388copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195 RNU6-1031P, LOC107984963, 193 more genes
    nsv3903468copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,870,760-76,969,150 , GRCh37 chr1: 60,098,172-77,196,562 , GRCh38 chr1: 59,632,500-76,730,877 WLS, LOC105378776, 219 more genes
    nsv3901841copy number variation1nstd102humanPathogenic GRCh38 chr1: 59,760,856-71,578,052 , NCBI36 chr1: 59,999,116-71,816,323 , GRCh37 chr1: 60,226,528-72,043,735 MIR3116-2, NFIA-AS2, 169 more genes
    nsv3901546copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611 ROR1, RNA5SP51, 333 more genes
    nsv3901058copy number variation1nstd102humanPathogenic GRCh38 chr1: 60,473,800-70,944,955 , NCBI36 chr1: 60,712,060-71,183,226 , GRCh37 chr1: 60,939,472-71,410,638 UBE2U, LOC105378776, 150 more genes
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