A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594412



Internal ID16381821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:63588998..64232175hg38UCSC Ensembl
Innerchr4:64454716..65097893hg19UCSC Ensembl
Innerchr4:64137311..64780488hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38643178
hg19643178
hg18643178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152694
SamplesHGDP01062
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594412
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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