A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914966



Internal ID10736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63904224..63941782hg38UCSC Ensembl
chr2:64131358..64168916hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3837559
hg1937559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442772
Supporting Variants
Samples
Known GenesVPS54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914966
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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