A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526113



Internal ID18477708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123642456..123682431hg38UCSC Ensembl
Innerchr12:124127003..124166978hg19UCSC Ensembl
Innerchr12:122692956..122732931hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3839976
hg1939976
hg1839976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1037556
Supporting Variants
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526113
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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