A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971547



Internal ID16265503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113947504..113948545hg38UCSC Ensembl
Innerchr3:113666351..113667392hg19UCSC Ensembl
Innerchr3:115149041..115150082hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381042
hg191042
hg181042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591314
Supporting Variants
Samples
Known GenesZDHHC23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971547
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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