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Items: 1 to 20 of 188

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5029336copy number variation1nstd200human GRCh38 chr21: 30,571,658-30,938,435 , GRCh37.p13 chr21: 31,943,977-32,310,754 KRTAP20-3, KRTAP8-1, 17 more genes
    nsv5023498copy number variation1nstd200human GRCh38 chr21: 30,513,966-30,688,897 , GRCh37.p13 chr21: 31,886,284-32,061,215 KRTAP20-1, KRTAP20-3, 11 more genes
    nsv5023174copy number variation1nstd200human GRCh38 chr21: 22,907,052-31,032,550 , GRCh37.p13 chr21: 24,279,373-32,404,869 , KRTAP13-1, 136 more genes
    nsv4863069copy number variation1nstd200human GRCh37 chr21: 31,886,284-32,061,215 , GRCh38.p12 chr21: 30,513,966-30,688,897 KRTAP6-3, KRTAP22-2, 11 more genes
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4729884copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,119,490-32,484,078 , GRCh38.p12 chr21: 29,747,171-31,111,760 KRTAP20-2, KRTAP6-3, 52 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676196copy number variation1nstd102humanPathogenic GRCh37 chr21: 31,711,916-34,632,473 , GRCh38.p12 chr21: 30,339,598-33,260,168 OLIG2, LOC105372787, 83 more genes
    nsv4676178copy number variation1nstd102humanPathogenic GRCh37 chr21: 27,826,100-32,468,109 , GRCh38.p12 chr21: 26,453,781-31,095,791 GRIK1-AS2, NCSTNP1, 94 more genes
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
    nsv4368328copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,382 , GRCh38.p12 chr21: 13,634,137-46,677,470 , DNMT3L, 639 more genes
    nsv4367905copy number variation1nstd173human GRCh37 chr21: 15,255,805-48,097,372 , GRCh38.p12 chr21: 13,883,484-46,677,460 , LINC00205, 623 more genes
    nsv4337141sequence alteration1nstd166human GRCh37.p13 chr21: 16,954,012-32,244,800 , GRCh38.p12 chr21: 15,581,693-30,872,481 , BACH1, 199 more genes
    nsv4287786copy number variation1nstd166human GRCh37.p13 chr21: 31,886,284-32,061,215 , GRCh38.p12 chr21: 30,513,966-30,688,897 KRTAP20-3, KRTAP20-1, 11 more genes
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