A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594744



Internal ID16035467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82570382..82837674hg38UCSC Ensembl
Innerchr4:83491535..83758827hg19UCSC Ensembl
Innerchr4:83710559..83977851hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38267293
hg19267293
hg18267293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002613
Samples
Known GenesLINC00575, MIR575, SCD5, SEC31A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594744
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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