A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175399



Internal ID15534004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:938365..1010792hg38UCSC Ensembl
Innerchr12:1047531..1119958hg19UCSC Ensembl
Innerchr12:917792..990219hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3872428
hg1972428
hg1872428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556942
Supporting Variants
SamplesNINDS_247
Known GenesERC1, RAD52
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175399
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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