A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176420



Internal ID15534315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70405024..70440088hg38UCSC Ensembl
Innerchr12:70798804..70833868hg19UCSC Ensembl
Innerchr12:69085071..69120135hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3835065
hg1935065
hg1835065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559258
Supporting Variants
SamplesNINDS_58
Known GenesKCNMB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176420
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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