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Items: 1 to 20 of 135

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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
    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
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728615copy number variation1nstd102humanUncertain significance GRCh37 chr2: 177,542,722-179,538,238 , GRCh38.p12 chr2: 176,677,994-178,673,511 MIR3128, PLEKHA3, 40 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 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
    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
    nsv4452748copy number variation1nstd102humanPathogenic GRCh37 chr2: 176,310,551-179,092,634 , GRCh38.p12 chr2: 175,445,823-178,227,907 LOC105373760, LOC105369143, 63 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
    nsv4079528copy number variation1nstd166human GRCh37.p13 chr2: 178,991,724-178,992,764 , GRCh38.p12 chr2: 178,126,997-178,128,037 RBM45
    nsv4076147copy number variation1nstd166human GRCh37.p13 chr2: 178,989,481-178,990,077 , GRCh38.p12 chr2: 178,124,754-178,125,350 RBM45
    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
    nsv3917891copy number variation1nstd102humanPathogenic NCBI36 chr2: 176,760,292-181,716,327 , GRCh37.p13 chr2: 177,052,046-182,008,082 , GRCh38.p12 chr2: 176,187,318-181,143,355 PPIAP67, PJVK, 75 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
    nsv3905582copy number variation1nstd102humanPathogenic GRCh38 chr2: 176,086,763-193,201,970 , NCBI36 chr2: 176,659,737-193,774,941 , GRCh37 chr2: 176,951,491-194,066,696 RPL23AP35, HNRNPA3, 211 more genes
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