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Items: 1 to 20 of 232

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7095615copy number variation1nstd102humanUncertain significance GRCh37 chr1: 41,249,766-41,475,917 , GRCh38.p12 chr1: 40,784,094-41,010,245 RN7SL326P, LOC100128362, 5 more genes
    nsv7049142inversion1nstd229human GRCh38 chr1: 40,838,637-40,838,749 , GRCh37.p13 chr1: 41,304,309-41,304,421 KCNQ4
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6650124copy number variation1nstd229human GRCh38 chr1: 40,792,701-40,796,200 , GRCh37.p13 chr1: 41,258,373-41,261,872 KCNQ4
    nsv6650123copy number variation1nstd229human GRCh38 chr1: 40,791,366-40,829,999 , GRCh37.p13 chr1: 41,257,038-41,295,671 RN7SL326P, KCNQ4
    nsv6650062copy number variation1nstd229human GRCh38 chr1: 40,811,736-40,816,586 , GRCh37.p13 chr1: 41,277,408-41,282,258 KCNQ4
    nsv6649393copy number variation1nstd229human GRCh38 chr1: 40,808,007-40,808,058 , GRCh37.p13 chr1: 41,273,679-41,273,730 KCNQ4
    nsv6549444inversion1nstd223human GRCh38 chr1: 40,775,108-40,799,673 , GRCh37.p13 chr1: 41,240,780-41,265,345 KCNQ4
    nsv6330133copy number variation1nstd223human GRCh38 chr1: 40,835,892-40,836,075 , GRCh37.p13 chr1: 41,301,564-41,301,747 KCNQ4
    nsv6314505complex chromosomal rearrangement3nstd102humanUncertain significance GRCh38.p12 chr2: 161,774,564-161,774,564 , GRCh38.p12 chr2: 161,774,565-161,774,565 , GRCh38.p12 chr2: 170,691,142-170,691,142 , GRCh38.p12 chr2: 170,715,404-170,715,404 , GRCh37 chr2: 162,631,074-162,631,074 , GRCh37 chr2: 162,631,075-162,631,075 , GRCh37 chr2: 171,547,652-171,547,652 , GRCh37 chr2: 171,571,914-171,571,914 , GRCh38.p12 chr1: 40,806,541-40,806,541 , GRCh38.p12 chr1: 40,806,540-40,806,540 , GRCh37 chr1: 41,272,212-41,272,212 , GRCh37 chr1: 41,272,213-41,272,213 KCNQ4, SLC4A10, 2 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6152492copy number variation1nstd214human GRCh38 chr1: 40,808,007-40,808,057 , GRCh37.p13 chr1: 41,273,679-41,273,729 KCNQ4
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5872293copy number variation1nstd209human GRCh38 chr1: 40,808,007-40,808,057 , GRCh37.p13 chr1: 41,273,679-41,273,729 KCNQ4
    nsv5569121copy number variation1nstd207human GRCh38 chr1: 40,808,007-40,808,057 , GRCh37.p13 chr1: 41,273,679-41,273,729 KCNQ4
    nsv5432397copy number variation1nstd206human GRCh38 chr1: 40,808,007-40,808,058 , GRCh37.p13 chr1: 41,273,679-41,273,730 KCNQ4
    nsv5418811copy number variation1nstd206human GRCh38 chr1: 40,835,897-40,836,075 , GRCh37.p13 chr1: 41,301,569-41,301,747 KCNQ4
    nsv5351321translocation1nstd200human GRCh38 chr1: 40,835,897-40,835,897 , GRCh38 chr1: 40,836,075-40,836,075 , GRCh37.p13 chr1: 41,301,569-41,301,569 , GRCh37.p13 chr1: 41,301,747-41,301,747 KCNQ4
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