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Items: 1 to 20 of 385

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7039638inversion1nstd229human GRCh38 chr2: 240,674,278-240,684,465 , GRCh37.p13 chr2: 241,613,695-241,623,882 AQP12B, LOC285191
    nsv6713961copy number variation1nstd229human GRCh38 chr2: 240,654,128-240,740,026 , GRCh37.p13 chr2: 241,593,545-241,679,443 LOC285191, AQP12B, 3 more genes
    nsv6710725copy number variation1nstd229human GRCh38 chr2: 240,108,601-241,272,500 , GRCh37.p13 chr2: 241,048,018-242,211,915 LOC112268440, CAPN10-DT, 34 more genes
    nsv6701616copy number variation1nstd229human GRCh38 chr2: 240,613,471-240,685,955 , GRCh37.p13 chr2: 241,552,888-241,625,372 GPR35, LOC100420500, 2 more genes
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6634398copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,229,304-243,199,373 , GRCh38.p12 chr2: 238,320,663-242,157,305 HDAC4-AS1, ING5, 92 more genes
    nsv6628024copy number variation2nstd224human GRCh37 chr2: 241,623,458-241,689,865 , GRCh38.p12 chr2: 240,684,041-240,750,448 LOC285191, AQP12A, 2 more genes
    nsv6627581copy number variation2nstd224human GRCh37 chr2: 241,623,458-241,702,124 , GRCh38.p12 chr2: 240,684,041-240,762,707 KIF1A, LOC285191, 2 more genes
    nsv6627580copy number variation1nstd224human GRCh37 chr2: 241,569,874-241,672,740 , GRCh38.p12 chr2: 240,630,457-240,733,323 KIF1A, GPR35, 4 more genes
    nsv6553769inversion1nstd223human GRCh38 chr2: 240,682,807-240,692,142 , GRCh37.p13 chr2: 241,622,224-241,631,559 LOC285191, AQP12A, 1 more genes
    nsv6553390inversion1nstd223human GRCh38 chr2: 240,682,778-240,692,025 , GRCh37.p13 chr2: 241,622,195-241,631,442 LOC285191, AQP12A, 1 more genes
    nsv6545336inversion1nstd223human GRCh38 chr2: 240,684,564-240,690,190 , GRCh37.p13 chr2: 241,623,981-241,629,607 LOC285191, AQP12A, 1 more genes
    nsv6539296inversion1nstd223human GRCh38 chr2: 240,685,519-240,689,080 , GRCh37.p13 chr2: 241,624,936-241,628,497 LOC285191, AQP12B
    nsv6538204inversion1nstd223human GRCh38 chr2: 240,685,514-240,689,057 , GRCh37.p13 chr2: 241,624,931-241,628,474 LOC285191, AQP12B
    nsv6348430copy number variation1nstd223human GRCh38 chr2: 237,953,314-241,782,040 , GRCh37.p13 chr2: 238,861,956-242,721,455 HDLBP-AS1, TWIST2, 90 more genes
    nsv6343113copy number variation1nstd223human GRCh38 chr2: 240,670,701-240,799,700 , GRCh37.p13 chr2: 241,610,118-241,739,117 LOC285191, AQP12A, 3 more genes
    nsv6315457copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,472,789-242,783,384 , GRCh38.p12 chr2: 235,564,145-241,841,232 AGAP1, OR5S1P, 130 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 LOC105373929, LOC105373932, 204 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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