A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv804415



Internal ID16098371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130587916..130696521hg38UCSC Ensembl
Innerchr12:131072461..131181066hg19UCSC Ensembl
Innerchr12:129638414..129747019hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38108606
hg19108606
hg18108606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560747
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv804415
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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