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Items: 1 to 20 of 153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6685161copy number variation1nstd229human GRCh38 chr2: 181,295,929-182,109,394 , GRCh37.p13 chr2: 182,160,656-182,974,121 CERKL, RNU6ATAC19P, 10 more genes
    nsv6548079inversion1nstd223human GRCh38 chr2: 178,157,654-187,669,944 , GRCh37.p13 chr2: 179,022,381-188,534,671 RNU7-104P, RN7SKP42, 90 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6311549copy number variation1nstd102humanUncertain significance GRCh37 chr2: 182,521,476-182,545,307 , GRCh38.p12 chr2: 181,656,749-181,680,580 CERKL, NEUROD1
    nsv5832281copy number variation1nstd209human GRCh38 chr2: 181,675,173-181,677,406 , GRCh37.p13 chr2: 182,539,900-182,542,133 NEUROD1
    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
    nsv5366694translocation1nstd200human GRCh38 chr2: 181,671,775-181,671,775 , GRCh38 chr2: 181,669,329-181,669,329 , GRCh37.p13 chr2: 182,536,502-182,536,502 , GRCh37.p13 chr2: 182,534,056-182,534,056 NEUROD1
    nsv5342713translocation1nstd200human GRCh37 chr2: 182,534,056-182,534,056 , GRCh37 chr2: 182,536,502-182,536,502 , GRCh38.p12 chr2: 181,671,775-181,671,775 , GRCh38.p12 chr2: 181,669,329-181,669,329 NEUROD1
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv5029942inversion1nstd200human GRCh38 chr2: 181,253,377-181,757,405 , GRCh37.p13 chr2: 182,118,104-182,622,132 ITGA4, NEUROD1, 5 more genes
    nsv4909938copy number variation1nstd200human GRCh38 chr2: 181,671,949-181,674,531 , GRCh37.p13 chr2: 182,536,676-182,539,258 NEUROD1
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4795043copy number variation1nstd200human GRCh37 chr2: 182,536,676-182,539,258 , GRCh38.p12 chr2: 181,671,949-181,674,531 NEUROD1
    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
    nsv4728198copy number variation1nstd102humanUncertain significance GRCh37 chr2: 180,266,166-183,403,506 , GRCh38.p12 chr2: 179,401,439-182,538,779 RPL27AP3, LOC105373771, 28 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
    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
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