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Items: 1 to 20 of 19006

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314514complex chromosomal rearrangement3nstd102humanPathogenic GRCh37 chr7: 128,114,023-128,114,023 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh37 chr7: 128,114,028-128,114,028 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh38.p12 chr7: 128,473,974-128,473,974 , GRCh38.p12 chr19: 28,756,557-28,756,557 , GRCh38.p12 chr19: 28,756,557-28,756,557 , GRCh38.p12 chr19: 32,370,862-32,370,862 , GRCh38.p12 chr19: 32,370,862-32,370,862 , GRCh38.p12 chr7: 128,473,969-128,473,969 ZNF507
    nsv6314523complex chromosomal rearrangement3nstd102humanPathogenic GRCh37 chr5: 119,485,964-119,485,964 , GRCh37 chr5: 119,486,003-119,486,003 , GRCh37 chr5: 119,486,172-119,486,172 , GRCh37 chr5: 119,486,176-119,486,176 , GRCh38.p12 chr5: 120,150,269-120,150,269 , GRCh38.p12 chr5: 120,150,308-120,150,308 , GRCh38.p12 chr5: 120,150,477-120,150,477 , GRCh38.p12 chr5: 120,150,481-120,150,481 , GRCh38.p12 chr2: 148,258,393-148,258,393 , GRCh38.p12 chr2: 148,259,189-148,259,189 , GRCh37 chr2: 149,016,758-149,016,758 , GRCh37 chr2: 149,015,962-149,015,962 MBD5
    nsv6314451complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr14: 21,431,705-21,431,705 , GRCh38.p12 chr14: 21,431,705-21,431,705 , GRCh37 chr14: 21,899,864-21,899,864 , GRCh37 chr14: 21,899,864-21,899,864 , GRCh37 chr3: 156,276,247-156,276,247 , GRCh37 chr3: 156,276,251-156,276,251 , GRCh38.p12 chr3: 156,558,458-156,558,458 , GRCh38.p12 chr3: 156,558,462-156,558,462 CHD8
    nsv6314427complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr18: 65,690,061-65,690,061 , GRCh37 chr18: 65,690,062-65,690,062 , GRCh38.p12 chr18: 68,022,824-68,022,824 , GRCh38.p12 chr18: 68,022,825-68,022,825 , GRCh37 chr3: 114,447,919-114,447,919 , GRCh37 chr3: 114,447,922-114,447,922 , GRCh38.p12 chr3: 114,729,072-114,729,072 , GRCh38.p12 chr3: 114,729,075-114,729,075 ZBTB20
    nsv6314383complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr10: 74,846,168-74,846,168 , GRCh38.p12 chr10: 74,849,628-74,849,628 , GRCh37 chr10: 76,605,926-76,605,926 , GRCh37 chr10: 76,609,386-76,609,386 , GRCh38.p12 chr2: 22,991,594-22,991,594 , GRCh38.p12 chr2: 22,993,514-22,993,514 , GRCh37 chr2: 23,214,466-23,214,466 , GRCh37 chr2: 23,216,386-23,216,386 , GRCh38.p12 chr10|NW_009646202.1: 50,844-50,844 , GRCh38.p12 chr10|NW_009646202.1: 54,304-54,304 KAT6B
    nsv6314374complex chromosomal rearrangement4nstd102humanPathogenic GRCh38.p12 chr12: 24,496,354-24,496,354 , GRCh38.p12 chr12: 24,496,558-24,496,558 , GRCh38.p12 chr12: 24,532,041-24,532,041 , GRCh38.p12 chr12: 24,532,128-24,532,128 , GRCh37 chr12: 24,649,288-24,649,288 , GRCh37 chr12: 24,649,492-24,649,492 , GRCh37 chr12: 24,684,975-24,684,975 , GRCh37 chr12: 24,685,062-24,685,062 , GRCh38.p12 chr2: 6,126,603-6,126,603 , GRCh38.p12 chr2: 6,126,681-6,126,681 , GRCh38.p12 chr2: 7,712,337-7,712,337 , GRCh38.p12 chr2: 7,712,487-7,712,487 , GRCh37 chr2: 6,266,735-6,266,735 , GRCh37 chr2: 6,266,813-6,266,813 , GRCh37 chr2: 7,852,468-7,852,468 , GRCh37 chr2: 7,852,618-7,852,618 SOX5
    nsv6314350complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr9: 21,845,449-21,845,449 , GRCh38.p12 chr9: 21,845,457-21,845,457 , GRCh37 chr9: 21,845,448-21,845,448 , GRCh37 chr9: 21,845,456-21,845,456 , GRCh38.p12 chr8: 59,982,704-59,982,704 , GRCh38.p12 chr8: 59,982,708-59,982,708 , GRCh37 chr8: 60,895,263-60,895,263 , GRCh37 chr8: 60,895,267-60,895,267 MTAP
    nsv6314282complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr11: 46,619,320-46,619,320 , GRCh37 chr11: 46,619,326-46,619,326 , GRCh38.p12 chr11: 46,597,770-46,597,770 , GRCh38.p12 chr11: 46,597,776-46,597,776 , GRCh38.p12 chr9: 137,767,171-137,767,171 , GRCh38.p12 chr9: 137,767,202-137,767,202 , GRCh37 chr9: 140,661,623-140,661,623 , GRCh37 chr9: 140,661,654-140,661,654 EHMT1
    nsv6314238complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr5: 11,420,640-11,420,640 , GRCh37 chr5: 11,420,650-11,420,650 , GRCh38.p12 chr5: 11,420,528-11,420,528 , GRCh38.p12 chr5: 11,420,538-11,420,538 , GRCh37 chr3: 147,428,507-147,428,507 , GRCh37 chr3: 147,428,516-147,428,516 , GRCh38.p12 chr3: 147,710,720-147,710,720 , GRCh38.p12 chr3: 147,710,729-147,710,729 CTNND2
    nsv6314596complex chromosomal rearrangement3nstd102humanLikely pathogenic GRCh37 chr6: 140,836,347-140,836,347 , GRCh37 chr6: 137,570,833-137,570,833 , GRCh37 chr6: 140,836,347-140,836,347 , GRCh37 chr6: 137,570,833-137,570,833 , GRCh37 chr15: 72,791,701-72,791,701 , GRCh37 chr15: 72,859,898-72,859,898 , GRCh38.p12 chr15: 72,567,557-72,567,557 , GRCh38.p12 chr15: 72,499,360-72,499,360 , GRCh38.p12 chr6: 140,515,210-140,515,210 , GRCh38.p12 chr6: 140,515,210-140,515,210 , GRCh38.p12 chr6: 137,249,696-137,249,696 , GRCh38.p12 chr6: 137,249,696-137,249,696 ARIH1
    nsv6314236complex chromosomal rearrangement3nstd102humanLikely pathogenic GRCh37 chr10: 11,411,948-11,411,948 , GRCh37 chr10: 11,411,948-11,411,948 , GRCh37 chr10: 14,750,351-14,750,351 , GRCh37 chr10: 14,750,351-14,750,351 , GRCh37 chr14: 43,931,475-43,931,475 , GRCh37 chr14: 43,931,475-43,931,475 , GRCh38.p12 chr10: 11,369,949-11,369,949 , GRCh38.p12 chr10: 11,369,949-11,369,949 , GRCh38.p12 chr10: 14,708,352-14,708,352 , GRCh38.p12 chr10: 14,708,352-14,708,352 , GRCh38.p12 chr14: 43,462,272-43,462,272 , GRCh38.p12 chr14: 43,462,272-43,462,272 FAM107B
    nsv6314553complex chromosomal rearrangement3nstd102humanLikely pathogenic GRCh37 chr2: 45,295,834-45,295,834 , GRCh37 chr2: 69,829,278-69,829,278 , GRCh37 chr2: 45,295,834-45,295,834 , GRCh37 chr2: 69,829,278-69,829,278 , GRCh37 chr3: 147,714,494-147,714,494 , GRCh37 chr3: 147,714,494-147,714,494 , GRCh38.p12 chr2: 69,602,146-69,602,146 , GRCh38.p12 chr2: 69,602,146-69,602,146 , GRCh38.p12 chr2: 45,068,695-45,068,695 , GRCh38.p12 chr2: 45,068,695-45,068,695 , GRCh38.p12 chr3: 147,996,707-147,996,707 , GRCh38.p12 chr3: 147,996,707-147,996,707 AAK1
    nsv6314595complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr9: 10,964,656-10,964,656 , GRCh38.p12 chr9: 10,964,661-10,964,661 , GRCh37 chr9: 10,964,656-10,964,656 , GRCh37 chr9: 10,964,661-10,964,661 , GRCh37 chr7: 92,434,321-92,434,321 , GRCh37 chr7: 92,434,331-92,434,331 , GRCh38.p12 chr7: 92,805,007-92,805,007 , GRCh38.p12 chr7: 92,805,017-92,805,017 CDK6
    nsv6314575complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr12: 62,284,018-62,284,018 , GRCh38.p12 chr12: 62,284,019-62,284,019 , GRCh37 chr12: 62,677,799-62,677,799 , GRCh37 chr12: 62,677,800-62,677,800 , GRCh37 chr7: 93,529,682-93,529,682 , GRCh37 chr7: 93,529,690-93,529,690 , GRCh38.p12 chr7: 93,900,370-93,900,370 , GRCh38.p12 chr7: 93,900,378-93,900,378 USP15
    nsv6314411complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr4: 110,832,775-110,832,775 , GRCh38.p12 chr4: 110,832,999-110,832,999 , GRCh37 chr4: 111,753,931-111,753,931 , GRCh37 chr4: 111,754,155-111,754,155 , GRCh38.p12 chr2: 44,373,713-44,373,713 , GRCh38.p12 chr2: 44,374,328-44,374,328 , GRCh37 chr2: 44,600,852-44,600,852 , GRCh37 chr2: 44,601,467-44,601,467 CAMKMT
    nsv6314404complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr8: 18,716,567-18,716,567 , GRCh38.p12 chr8: 18,716,568-18,716,568 , GRCh37 chr8: 18,574,077-18,574,077 , GRCh37 chr8: 18,574,078-18,574,078 , GRCh38.p12 chr2: 199,227,700-199,227,700 , GRCh38.p12 chr2: 199,227,701-199,227,701 , GRCh37 chr2: 200,092,423-200,092,423 , GRCh37 chr2: 200,092,424-200,092,424 PSD3
    nsv6314400complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr19: 7,447,437-7,447,437 , GRCh38.p12 chr19: 7,447,449-7,447,449 , GRCh37 chr19: 7,512,323-7,512,323 , GRCh37 chr19: 7,512,335-7,512,335 , GRCh38.p12 chr1: 43,027,916-43,027,916 , GRCh38.p12 chr1: 43,027,918-43,027,918 , GRCh37 chr1: 43,493,587-43,493,587 , GRCh37 chr1: 43,493,589-43,493,589 ARHGEF18
    nsv6314371complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh37 chr5: 88,829,562-88,829,562 , GRCh37 chr5: 88,829,564-88,829,564 , GRCh38.p12 chr5: 89,533,745-89,533,745 , GRCh38.p12 chr5: 89,533,747-89,533,747 , GRCh38.p12 chr1: 85,691,448-85,691,448 , GRCh38.p12 chr1: 85,691,449-85,691,449 , GRCh37 chr1: 86,157,131-86,157,131 , GRCh37 chr1: 86,157,132-86,157,132 ZNHIT6
    nsv6314362complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh37 chr17: 68,247,915-68,247,915 , GRCh37 chr17: 68,247,919-68,247,919 , GRCh38.p12 chr17: 70,251,774-70,251,774 , GRCh38.p12 chr17: 70,251,778-70,251,778 , GRCh37 chr3: 54,949,512-54,949,512 , GRCh37 chr3: 54,949,519-54,949,519 , GRCh38.p12 chr3: 54,915,485-54,915,485 , GRCh38.p12 chr3: 54,915,492-54,915,492 CACNA2D3
    nsv6314306complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr4: 11,160,052-11,160,052 , GRCh38.p12 chr4: 11,160,057-11,160,057 , GRCh37 chr4: 11,161,676-11,161,676 , GRCh37 chr4: 11,161,681-11,161,681 , GRCh38.p12 chr1: 164,799,626-164,799,626 , GRCh38.p12 chr1: 164,799,656-164,799,656 , GRCh37 chr1: 164,768,863-164,768,863 , GRCh37 chr1: 164,768,893-164,768,893 PBX1
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