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Items: 1 to 20 of 95

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5296442copy number variation1nstd204human GRCh38.p13 chr1: 34,977,262-35,073,212 , GRCh37.p13 chr1: 35,442,863-35,538,813 ZMYM1, GPR199P, 3 more genes
    nsv5215408copy number variation1nstd204human GRCh38.p13 chr1: 34,977,101-35,073,200 , GRCh37.p13 chr1: 35,442,702-35,538,801 GPR199P, TMEM35B, 3 more genes
    nsv5212873copy number variation1nstd204human GRCh38.p13 chr1: 34,976,631-35,010,418 , GRCh37.p13 chr1: 35,442,232-35,476,019 ZMYM6, GPR199P, 1 more genes
    nsv4895918copy number variation1nstd200human GRCh38 chr1: 34,976,775-34,977,241 , GRCh37.p13 chr1: 35,442,376-35,442,842 GPR199P
    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
    nsv4578482copy number variation1nstd102humanUncertain significance GRCh37 chr1: 35,321,300-35,944,813 , GRCh38.p12 chr1: 34,855,699-35,479,212 LOC105378644, ZMYM4, 14 more genes
    nsv4450314copy number variation1nstd102humanUncertain significance GRCh37 chr1: 34,915,050-36,163,162 , GRCh38.p12 chr1: 34,449,449-35,697,561 LOC105378644, RNY5P1, 27 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
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 LOC100419802, RPL5P4, 75 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
    nsv4038412copy number variation1nstd166human GRCh37.p13 chr1: 35,438,515-35,444,171 , GRCh38.p12 chr1: 34,972,914-34,978,570 GPR199P
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3890386copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 34,992,126-36,293,498 , GRCh37 chr1: 35,219,539-36,520,911 , GRCh38 chr1: 34,753,938-36,055,310 GJA4, GJB3, 31 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3883608copy number variation1nstd102humanPathogenic GRCh37 chr1: 34,830,287-36,945,093 , GRCh38.p12 chr1: 34,364,686-36,479,492 LSM10, STK40, 52 more genes
    nsv3880290copy number variation1nstd102humanBenign GRCh37 chr1: 35,403,677-35,581,447 , GRCh38.p12 chr1: 34,938,076-35,115,846 GPR199P, RPL12P45, 3 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
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