A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803204



Internal ID15750474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117203424..117213068hg38UCSC Ensembl
Innerchr12:117641229..117650873hg19UCSC Ensembl
Innerchr12:116125612..116135256hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg389645
hg199645
hg189645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560360
Supporting Variants
Samples
Known GenesNOS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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