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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4903354copy number variation1nstd200human GRCh38 chr1: 35,671,409-35,713,590 , GRCh37.p13 chr1: 36,137,010-36,179,191 LOC105378646, C1orf216
    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
    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
    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
    nsv3882463copy number variation1nstd102humanUncertain significance GRCh37 chr1: 35,950,860-36,465,764 , GRCh38.p12 chr1: 35,485,259-36,000,163 PSMB2, CLSPN, 10 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
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3874782copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357 LOC101929444, GJB4, 143 more genes
    nsv1428422short tandem repeat1nstd128human GRCh37 chr1: 36,180,969-36,180,981 , GRCh38.p12 chr1: 35,715,368-35,715,380 C1orf216
    nsv1427486short tandem repeat3nstd128human GRCh37 chr1: 36,178,315-36,178,347 , GRCh38.p12 chr1: 35,712,714-35,712,746 C1orf216
    nsv1194953copy number variation1nstd113human NCBI36 chr1: 33,923,045-37,060,188 , GRCh37.p13 chr1: 34,150,458-37,287,601 , GRCh38.p12 chr1: 33,684,858-36,822,000 , GJB5, 65 more genes
    nsv1193632copy number variation1nstd113human NCBI36 chr1: 30,733,634-38,055,499 , GRCh37.p13 chr1: 30,961,047-38,282,912 , GRCh38.p12 chr1: 30,488,200-37,817,240 , COL16A1, 191 more genes
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