A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594213



Internal ID16381622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57275201..57694445hg38UCSC Ensembl
Innerchr4:58141367..58560611hg19UCSC Ensembl
Innerchr4:57836124..58255368hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38419245
hg19419245
hg18419245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998052
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594213
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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