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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5307114copy number variation1nstd204human GRCh38.p13 chr12: 27,543,878-29,812,093 , GRCh37.p13 chr12: 27,696,811-29,965,026 , RNU4-54P, 28 more genes
    nsv5271040copy number variation1nstd204human GRCh38.p13 chr12: 28,650,801-29,812,400 , GRCh37.p13 chr12: 28,803,734-29,965,333 LOC105369711, ERGIC2, 8 more genes
    nsv5127002mobile element insertion1nstd203human GRCh38 chr12: 29,295,733-29,295,779 , GRCh37.p13 chr12: 29,448,666-29,448,712 LOC100506606, FAR2
    nsv4981759copy number variation1nstd200human GRCh38 chr12: 29,294,603-29,323,691 , GRCh37.p13 chr12: 29,447,536-29,476,624 LOC100506606, FAR2
    nsv4981758copy number variation1nstd200human GRCh38 chr12: 29,284,557-29,295,686 , GRCh37.p13 chr12: 29,437,490-29,448,619 FAR2, LOC100506606
    nsv4974479copy number variation1nstd200human GRCh38 chr12: 28,852,046-29,364,263 , GRCh37.p13 chr12: 29,004,979-29,517,196 ERGIC2, LOC101928735, 2 more genes
    nsv4841449copy number variation1nstd200human GRCh37 chr12: 27,696,838-29,964,999 , GRCh38.p12 chr12: 27,543,905-29,812,066 , FAR2, 28 more genes
    nsv4834639copy number variation1nstd200human GRCh37 chr12: 29,447,536-29,476,624 , GRCh38.p12 chr12: 29,294,603-29,323,691 LOC100506606, FAR2
    nsv4834527copy number variation1nstd200human GRCh37 chr12: 29,004,979-29,517,196 , GRCh38.p12 chr12: 28,852,046-29,364,263 ERGIC2, LOC100506606, 2 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4710301copy number variation1nstd195human GRCh37 chr12: 29,250,851-29,476,251 , GRCh38.p12 chr12: 29,097,918-29,323,318 FAR2, LOC100506606
    nsv4708116copy number variation1nstd195human GRCh37 chr12: 29,428,351-29,476,051 , GRCh38.p12 chr12: 29,275,418-29,323,118 FAR2, LOC100506606
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4609854copy number variation1nstd183human GRCh37 chr12: 29,460,547-29,461,015 , GRCh38.p12 chr12: 29,307,614-29,308,082 FAR2, LOC100506606
    nsv4509878mobile element insertion1nstd166human GRCh37.p13 chr12: 29,466,241-29,466,241 , GRCh38.p12 chr12: 29,313,308-29,313,308 LOC100506606, FAR2
    nsv4500702mobile element insertion1nstd166human GRCh37.p13 chr12: 29,436,583-29,436,583 , GRCh38.p12 chr12: 29,283,650-29,283,650 FAR2, LOC100506606
    nsv4457088copy number variation1nstd102humanUncertain significance GRCh37 chr12: 29,274,700-29,458,694 , GRCh38.p12 chr12: 29,121,767-29,305,761 FAR2, LOC100506606
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
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