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Items: 1 to 20 of 162

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5450018copy number variation1nstd206human GRCh38 chr2: 173,353,789-173,354,076 , GRCh37.p13 chr2: 174,218,517-174,218,804 CDCA7
    nsv5446685copy number variation1nstd206human GRCh38 chr2: 173,360,585-173,361,646 , GRCh37.p13 chr2: 174,225,313-174,226,374 CDCA7
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4673892copy number variation1nstd102humanUncertain significance GRCh37 chr2: 173,865,202-175,428,639 , GRCh38.p12 chr2: 173,000,474-174,563,911 CBY1P1, GPR155-DT, 30 more genes
    nsv4454648copy number variation1nstd102humanPathogenic GRCh37 chr2: 173,538,954-186,401,606 , GRCh38.p12 chr2: 172,674,226-185,536,879 PDE11A, LOC100289479, 176 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4090043copy number variation1nstd166human GRCh37.p13 chr2: 174,176,000-174,224,000 , GRCh38.p12 chr2: 173,311,272-173,359,272 CDCA7, LOC100289479
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3920257copy number variation1nstd102humanPathogenic NCBI36 chr2: 173,710,846-180,977,641 , GRCh37.p13 chr2: 174,002,600-181,269,396 , GRCh38.p12 chr2: 173,137,872-180,404,669 LINC01117, RNU7-44P, 128 more genes
    nsv3914220copy number variation1nstd102humanPathogenic NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682 GPR155-DT, DAP3P2, 111 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3909452copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164 LOC107985959, TTC21B, 141 more genes
    nsv3908540copy number variation1nstd102humanPathogenic NCBI36 chr2: 172,077,803-178,427,053 , GRCh38 chr2: 171,513,047-177,854,080 , GRCh37 chr2: 172,369,557-178,718,807 RPS15P4, KRT8P40, 121 more genes
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