A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv790480



Internal ID15737750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29405652..29412246hg38UCSC Ensembl
Innerchr12:29558585..29565179hg19UCSC Ensembl
Innerchr12:29449852..29456446hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386595
hg196595
hg186595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557916
Supporting Variants
Samples
Known GenesOVCH1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv790480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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