A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176336



Internal ID15533035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123635436..123711309hg38UCSC Ensembl
Innerchr12:124119983..124195856hg19UCSC Ensembl
Innerchr12:122685936..122761809hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875874
hg1975874
hg1875874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560496
Supporting Variants
SamplesNINDS_10
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176336
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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