A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805942



Internal ID16099898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132729415..132730003hg38UCSC Ensembl
Innerchr12:133306001..133306589hg19UCSC Ensembl
Innerchr12:131816074..131816662hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561125
Supporting Variants
Samples
Known GenesANKLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805942
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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