A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803653



Internal ID15750923
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
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803653
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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