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Items: 1 to 20 of 70340

  • The following term was not found in dbVar: dolata.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3877123copy number variation1nstd102humanPathogenic GRCh38 chr1: 226,881,888-226,895,599 , GRCh37 chr1: 227,069,589-227,083,300 PSEN2
    nsv4728169copy number variation1nstd102humanPathogenic GRCh37 chr13: 32,915,334-32,928,997 , GRCh38.p12 chr13: 32,341,197-32,354,860 BRCA2
    nsv3884657copy number variation1nstd102humanPathogenic GRCh37 chr9: 104,188,775-104,195,222 , GRCh38 chr9: 101,426,493-101,432,940 ALDOB
    nsv5672810copy number variation1nstd102humanPathogenic GRCh38 chr14: 73,204,758-73,209,313 , GRCh37 chr14: 73,671,466-73,676,021 PSEN1
    nsv6309359copy number variation1nstd102humanPathogenic GRCh37 chr14: 73,673,074-73,673,200 , GRCh38.p12 chr14: 73,206,366-73,206,492 PSEN1
    nsv997043copy number variation1nstd45humanPathogenic GRCh38.p12 chr16: 86,510,527-86,514,464 , GRCh37 chr16: 86,544,133-86,548,070 FOXF1
    nsv6311063copy number variation1nstd102humanUncertain significance GRCh37 chr21: 27,253,981-27,277,409 , GRCh38.p12 chr21: 25,881,670-25,905,097 APP
    nsv6311104copy number variation1nstd102humanUncertain significance GRCh37 chr21: 27,462,239-27,542,938 , GRCh38.p12 chr21: 26,089,923-26,170,620 APP
    nsv1022675copy number variation1nstd100human NCBI36 chr5: 44,922,890-46,148,701 , GRCh37.p13 chr5: 44,887,133-46,112,944 , GRCh38.p12 chr5: 44,887,031-46,112,842 HCN1
    nsv1023694copy number variation1nstd100human NCBI36 chr7: 68,707,130-69,744,098 , GRCh37.p13 chr7: 69,069,194-70,106,162 , GRCh38.p12 chr7: 69,604,208-70,641,176 AUTS2
    nsv1056587copy number variation1nstd100human NCBI36 chr18: 25,093,783-26,097,069 , GRCh37.p13 chr18: 26,839,785-27,843,071 , GRCh38.p12 chr18: 29,259,820-30,263,106 LOC105372045
    nsv1018749copy number variation1nstd100human NCBI36 chr7: 68,786,965-69,633,048 , GRCh37.p13 chr7: 69,149,029-69,995,112 , GRCh38.p12 chr7: 69,684,043-70,530,126 AUTS2
    nsv1045192copy number variation1nstd100human NCBI36 chr12: 59,385,513-60,228,146 , GRCh37.p13 chr12: 61,099,246-61,941,879 , GRCh38.p12 chr12: 60,705,465-61,548,098 PGBD3P1
    nsv1030905copy number variation1nstd100human NCBI36 chr7: 61,292,750-61,525,563 , GRCh37.p13 chr7: 61,288,808-61,888,128 , GRCh38.p12 chr16|NT_187383.1: 331,112-610,898 , GRCh38.p12 chr7: 61,578,038-62,376,239 LOC102723945
    nsv1025940copy number variation4nstd100human NCBI36 chr7: 61,311,010-61,525,563 , GRCh37.p13 chr7: 61,307,068-61,888,128 , GRCh38.p12 chr7: 61,578,038-62,376,239 , GRCh38.p12 chr16|NT_187383.1: 331,112-610,898 LOC102723945
    nsv1015613copy number variation1nstd100human NCBI36 chr6: 103,519,784-104,297,844 , GRCh37.p13 chr6: 103,413,091-104,191,151 , GRCh38.p12 chr6: 102,965,216-103,743,276 LOC105377916
    nsv998485copy number variation1nstd100human NCBI36 chr2: 205,116,058-205,892,251 , GRCh37.p13 chr2: 205,407,813-206,184,006 , GRCh38.p12 chr2: 204,543,090-205,319,282 PARD3B
    nsv1056650copy number variation1nstd100human NCBI36 chr18: 25,398,110-26,039,823 , GRCh37.p13 chr18: 27,144,112-27,785,825 , GRCh38.p12 chr18: 29,564,147-30,205,860 LOC105372045
    nsv1008536copy number variation1nstd100human NCBI36 chr1: 104,936,855-105,549,582 , GRCh37.p13 chr1: 105,135,332-105,748,059 , GRCh38.p12 chr1: 104,592,710-105,205,437 LOC105378880
    nsv1003931copy number variation1nstd100human NCBI36 chr4: 17,850,673-18,458,996 , GRCh37.p13 chr4: 18,241,575-18,849,898 , GRCh38.p12 chr4: 18,239,952-18,848,275 LOC105374510
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