A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802852



Internal ID16096808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277470..116283652hg38UCSC Ensembl
Innerchr12:116715275..116721457hg19UCSC Ensembl
Innerchr12:115199658..115205840hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386183
hg196183
hg186183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560320
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)nssv802852
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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