A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801307



Internal ID15748577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98894593..98895444hg38UCSC Ensembl
Innerchr12:99288371..99289222hg19UCSC Ensembl
Innerchr12:97812502..97813353hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38852
hg19852
hg18852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559926
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801307
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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