A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593825



Internal ID16034548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:23700935..23888959hg38UCSC Ensembl
Innerchr4:23702558..23890582hg19UCSC Ensembl
Innerchr4:23311656..23499680hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38188025
hg19188025
hg18188025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv994405
Samples
Known GenesPPARGC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593825
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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