A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1157n54



Internal ID20134581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:54485907..54545055hg38UCSC Ensembl
chr10:56245667..56304815hg19UCSC Ensembl
chr10:55915673..55974821hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3859149
hg1959149
hg1859149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550962, nsv550963
Samples
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1157n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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