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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5975068inversion1nstd209human GRCh38 chr13: 24,966,165-25,349,536 , GRCh37.p13 chr13: 25,540,303-25,923,674 PABPC3, MTMR6, 12 more genes
    nsv5974508inversion1nstd209human GRCh38 chr13: 24,952,930-25,309,954 , GRCh37.p13 chr13: 25,527,068-25,884,092 PABPC3, MTMR6, 12 more genes
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5504509copy number variation1nstd206human GRCh38 chr13: 25,095,989-25,096,042 , GRCh37.p13 chr13: 25,670,127-25,670,180 LOC105370120, PABPC3
    nsv5501816copy number variation1nstd206human GRCh38 chr13: 25,096,790-25,099,155 , GRCh37.p13 chr13: 25,670,928-25,673,293 LOC105370120, PABPC3
    nsv5495502copy number variation1nstd206human GRCh38 chr13: 25,097,825-25,099,104 , GRCh37.p13 chr13: 25,671,963-25,673,242 PABPC3, LOC105370120
    nsv4729520copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 23,775,339-30,534,624 , GRCh38.p12 chr13: 23,201,200-29,960,487 PARP4, ATP12A, 136 more genes
    nsv4668551copy number variation1nstd186human GRCh37 chr13: 25,671,964-25,673,236 , GRCh38.p12 chr13: 25,097,826-25,099,098 LOC105370120, PABPC3
    nsv4657313copy number variation2nstd186human GRCh37 chr13: 25,670,127-25,670,180 , GRCh38.p12 chr13: 25,095,989-25,096,042 PABPC3, LOC105370120
    nsv4605530copy number variation1nstd183human GRCh37 chr13: 25,672,430-25,672,862 , GRCh38.p12 chr13: 25,098,292-25,098,724 LOC105370120, PABPC3
    nsv4600078copy number variation1nstd183human GRCh37 chr13: 25,671,964-25,673,236 , GRCh38.p12 chr13: 25,097,826-25,099,098 PABPC3, LOC105370120
    nsv4530047copy number variation1nstd166human GRCh37.p13 chr13: 25,670,127-25,670,180 , GRCh38.p12 chr13: 25,095,989-25,096,042 PABPC3, LOC105370120
    nsv4457197copy number variation1nstd102humanPathogenic GRCh37 chr13: 20,069,228-27,474,401 , GRCh38.p12 chr13: 19,495,088-26,900,264 ZDHHC20, ANKRD20A10P, 154 more genes
    nsv3924676copy number variation1nstd102humanPathogenic GRCh38 chr13: 18,456,040-114,340,285 , GRCh37 chr13: 19,030,180-115,105,760 , NCBI36 chr13: 17,928,180-114,123,862 GRTP1, FABP5P1, 1334 more genes
    nsv3922463copy number variation1nstd102humanPathogenic NCBI36 chr13: 18,418,322-114,088,205 , GRCh37 chr13: 19,520,322-115,070,103 , GRCh38 chr13: 18,946,182-114,304,628 TULP3P1, LOC105370349, 1311 more genes
    nsv3921223copy number variation1nstd102humanPathogenic GRCh38 chr13: 19,671,934-114,340,331 , NCBI36 chr13: 19,144,074-114,123,908 , GRCh37 chr13: 20,246,074-115,085,141 TRIM60P13, LINC00351, 1289 more genes
    nsv3920749copy number variation1nstd102humanPathogenic GRCh37 chr13: 20,407,270-115,064,089 , GRCh38 chr13: 19,833,130-114,298,614 , NCBI36 chr13: 19,305,270-114,082,191 DIAPH3-AS2, LOC105370216, 1281 more genes
    nsv3920186copy number variation1nstd102humanUncertain significance GRCh38 chr13: 24,635,449-25,592,788 , GRCh37 chr13: 25,209,587-26,166,926 , NCBI36 chr13: 24,107,587-25,064,926 IRX1P1, ELOBP1, 26 more genes
    nsv3919574copy number variation1nstd102humanPathogenic GRCh38 chr13: 18,850,545-114,327,173 , GRCh37 chr13: 19,296,527-115,085,141 , NCBI36 chr13: 18,194,527-114,110,750 RNU6-77P, LINC00457, 1317 more genes
    nsv3917322copy number variation2nstd102humanPathogenic NCBI36 chr13: 19,309,535-114,110,750 , GRCh37 chr13: 20,411,535-115,085,141 , GRCh38 chr13: 19,837,395-114,327,173 RNY1P7, LINC01039, 1283 more genes
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