A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114621



Internal ID21297887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89820428..89823930hg38UCSC Ensembl
Innerchr1:90285987..90289489hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383503
hg193503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14097536
Samplessample348
Known GenesLRRC8D
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114621
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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