A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002512



Internal ID19091729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:23827085..23858213hg38UCSC Ensembl
Innerchr4:23828708..23859836hg19UCSC Ensembl
Innerchr4:23437806..23468934hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3831129
hg1931129
hg1831129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3620591
Samples
Known GenesPPARGC1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002512
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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