A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4531n54



Internal ID20137955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:53598165..54164557hg38UCSC Ensembl
chr15:53890362..54456754hg19UCSC Ensembl
chr15:51677654..52244046hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38566393
hg19566393
hg18566393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569442, nsv569441, nsv569440
SamplesHGDP00726, HGDP00130
Known GenesUNC13C, WDR72
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4531n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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