A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118063



Internal ID21301329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50686516..50893113hg38UCSC Ensembl
Innerchr14:51153234..51359831hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38206598
hg19206598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14094030
Samplessample13
Known GenesABHD12B, NIN
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118063
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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