A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4472n54



Internal ID20137896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34426393..34508394hg38UCSC Ensembl
chr15:34718594..34800595hg19UCSC Ensembl
chr15:32505886..32587887hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3882002
hg1982002
hg1882002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569021, nsv569086, nsv569063, nsv569076, nsv569062, nsv568996, nsv569007, nsv569033, nsv569049
Samples1782681076_A, NINDS_129, HGDP00133, HGDP00515, 1780862094_A, HGDP00756, HGDP00903, HGDP00203, 1798860049_A, HGDP01405, 1798860210_A, HGDP00251, NINDS_147, 1787431198_A, HGDP01087, HGDP00545, 1780854294_A, 1798860277_A, HGDP01253, HGDP00635, HGDP00801, NINDS_109, HGDP00267, HGDP00881, HGDP00070, HGDP00258, HGDP01386, NINDS_200, HGDP01073, HGDP01412, HGDP00151, 1780862461_A
Known GenesGOLGA8A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4472n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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