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Items: 1 to 20 of 29434

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4684021copy number variation2nstd102humanPathogenic GRCh37 chr2: 135,848,568-135,891,603 , GRCh38.p12 chr2: 135,090,998-135,134,033 RAB3GAP1
    nsv4684075copy number variation2nstd102humanPathogenic GRCh37 chr20: 18,492,869-18,496,380 , GRCh38.p12 chr20: 18,512,225-18,515,736 SEC23B
    nsv3875072copy number variation1nstd102humanPathogenic GRCh37 chr1: 143,500,223-149,763,815 , GRCh38.p12 chr7: 58,093,723-62,429,627 LOC101060796
    nsv4350321copy number variation1nstd102humanPathogenic GRCh37 chr6: 157,133,792-157,495,187 , GRCh38.p12 chr6: 156,812,658-157,174,053 ARID1B
    nsv3904398copy number variation1nstd102humanPathogenic NCBI36 chrX: 10,687,116-10,993,611 , GRCh37 chrX: 10,727,116-11,083,690 , GRCh38 chrX: 10,759,076-11,065,570 MID1
    nsv4675164copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,659,882-69,912,722 , GRCh38.p12 chr7: 70,194,896-70,447,736 AUTS2
    nsv3898390copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,848,278-70,012,732 , GRCh38.p12 chr7: 70,383,292-70,547,746 AUTS2
    nsv6314999copy number variation1nstd102humanPathogenic GRCh37 chrX: 32,715,977-32,867,947 , GRCh38.p12 chrX: 32,697,860-32,849,830 DMD
    nsv4346875copy number variation1nstd102humanPathogenic GRCh37 chr1: 237,413,038-237,540,797 , GRCh38.p12 chr1: 237,249,738-237,377,497 RYR2
    nsv3899148copy number variation1nstd102humanPathogenic NCBI36 chrX: 32,590,404-32,687,002 , GRCh37 chrX: 32,680,483-32,777,081 , GRCh38 chrX: 32,662,366-32,758,964 DMD
    nsv3908909copy number variation1nstd102humanPathogenic NCBI36 chr2: 199,851,573-199,945,510 , GRCh37 chr2: 200,143,328-200,237,265 , GRCh38 chr2: 199,278,605-199,372,542 SATB2
    nsv3902495copy number variation1nstd102humanPathogenic NCBI36 chr2: 199,882,903-199,976,770 , GRCh37 chr2: 200,174,658-200,268,525 , GRCh38 chr2: 199,309,935-199,403,802 SATB2
    nsv4685759copy number variation1nstd102humanPathogenic GRCh37 chr8: 100,067,471-100,156,392 , GRCh38.p12 chr8: 99,055,243-99,144,164 VPS13B
    nsv6636896copy number variation1nstd102humanPathogenic GRCh37 chrX: 32,835,255-32,920,421 , GRCh38.p12 chrX: 32,817,138-32,902,304 DMD
    nsv3901925copy number variation1nstd102humanPathogenic NCBI36 chrX: 31,446,998-31,529,862 , GRCh37 chrX: 31,537,077-31,619,941 , GRCh38 chrX: 31,518,960-31,601,824 DMD
    nsv3915273copy number variation1nstd102humanPathogenic NCBI36 chr15: 46,515,527-46,581,095 , GRCh37 chr15: 48,728,235-48,793,803 , GRCh38 chr15: 48,436,038-48,501,606 FBN1
    nsv3881877copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,201,266-149,239,392 , GRCh38.p12 chr2: 148,443,697-148,481,823 MBD5
    nsv4685581copy number variation2nstd102humanPathogenic GRCh37 chrX: 585,079-619,564 , GRCh38.p12 chrX: 624,344-658,829 SHOX
    nsv3894585copy number variation1nstd102humanPathogenic NCBI36 chrX: 110,448,204-110,478,062 , GRCh37 chrX: 110,561,548-110,591,406 , GRCh38 chrX: 111,318,320-111,348,178 DCX
    nsv3920315copy number variation1nstd102humanPathogenic NCBI36 chr5: 149,728,077-149,756,599 , GRCh37 chr5: 149,747,884-149,776,406 , GRCh38 chr5: 150,368,321-150,396,843 TCOF1
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