A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559930



Internal ID16000653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98894644..98895498hg38UCSC Ensembl
Innerchr12:99288422..99289276hg19UCSC Ensembl
Innerchr12:97812553..97813407hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2818n54
Supporting Variantsnssv801332, nssv801331
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559930
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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