A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117848



Internal ID21301114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99136944..99141205hg38UCSC Ensembl
Innerchr12:99530722..99534983hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384262
hg194262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv275n145
Supporting Variantsnssv14092755
Samplessample117
Known GenesANKS1B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117848
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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