A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117080



Internal ID21300346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:49770044..49775121hg38UCSC Ensembl
Innerchr7:49809640..49814717hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg385078
hg195078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1105n145
Supporting Variantsnssv14086774
Samplessample348
Known GenesVWC2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117080
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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