A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559926



Internal ID16000649
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2818n54
Supporting Variantsnssv801305, nssv801307, nssv801306
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559926
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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