A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594231



Internal ID16381640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:58246993..58314762hg38UCSC Ensembl
Innerchr4:59113159..59180928hg19UCSC Ensembl
Innerchr4:58807916..58875685hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3867770
hg1967770
hg1867770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152922
SamplesHGDP00844
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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