A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175462



Internal ID15530844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29459492..29658538hg38UCSC Ensembl
Innerchr12:29612425..29811471hg19UCSC Ensembl
Innerchr12:29503692..29702738hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38199047
hg19199047
hg18199047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557917
Supporting Variants
SamplesHGDP01003
Known GenesOVCH1, OVCH1-AS1, TMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175462
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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