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Items: 1 to 20 of 208

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7041761inversion1nstd229human GRCh38 chr2: 161,208,254-165,696,625 , GRCh37.p13 chr2: 162,064,765-166,553,135 SCN3A, LOC101929532, 45 more genes
    nsv7039552inversion1nstd229human GRCh38 chr2: 161,275,467-165,696,611 , GRCh37.p13 chr2: 162,131,978-166,553,121 LOC105373722, EIF3EP3, 42 more genes
    nsv6694182copy number variation1nstd229human GRCh38 chr2: 164,826,771-164,857,104 , GRCh37.p13 chr2: 165,683,281-165,713,614 RNA5SP110, LOC101929633, 1 more genes
    nsv6690250copy number variation1nstd229human GRCh38 chr2: 164,842,994-164,843,086 , GRCh37.p13 chr2: 165,699,504-165,699,596 LOC101929633
    nsv6688230copy number variation1nstd229human GRCh38 chr2: 164,771,501-164,865,000 , GRCh37.p13 chr2: 165,628,011-165,721,510 LOC101929633, COBLL1, 1 more genes
    nsv6687961copy number variation1nstd229human GRCh38 chr2: 164,771,586-164,884,416 , GRCh37.p13 chr2: 165,628,096-165,740,926 LOC101929633, COBLL1, 1 more genes
    nsv6685192copy number variation1nstd229human GRCh38 chr2: 164,806,280-164,880,578 , GRCh37.p13 chr2: 165,662,790-165,737,088 COBLL1, LOC101929633, 1 more genes
    nsv6627280copy number variation1nstd224human GRCh37 chr2: 165,631,433-165,737,931 , GRCh38.p12 chr2: 164,774,923-164,881,421 COBLL1, RNA5SP110, 1 more genes
    nsv6345521copy number variation1nstd223human GRCh38 chr2: 164,771,586-164,884,416 , GRCh37.p13 chr2: 165,628,096-165,740,926 LOC101929633, COBLL1, 1 more genes
    nsv6335616copy number variation1nstd223human GRCh38 chr2: 164,840,187-164,840,575 , GRCh37.p13 chr2: 165,696,697-165,697,085 COBLL1, LOC101929633
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6313838copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,428,510-166,888,012 , GRCh38.p12 chr2: 164,572,000-166,031,502 RNA5SP111, TTC21B-AS1, 16 more genes
    nsv6313780copy number variation1nstd102humanPathogenic GRCh37 chr2: 161,551,326-167,762,790 , GRCh38.p12 chr2: 160,694,815-166,906,280 SCN9A, FIGN, 60 more genes
    nsv6295678copy number variation1nstd186human GRCh37 chr2: 165,696,697-165,697,085 , GRCh38.p12 chr2: 164,840,187-164,840,575 COBLL1, LOC101929633
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5899525copy number variation1nstd209human GRCh38 chr2: 164,840,187-164,840,573 , GRCh37.p13 chr2: 165,696,697-165,697,083 LOC101929633, COBLL1
    nsv5576580copy number variation1nstd207human GRCh38 chr2: 164,840,187-164,840,573 , GRCh37.p13 chr2: 165,696,697-165,697,083 COBLL1, LOC101929633
    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
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