A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914986



Internal ID10748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64115004..64288383hg38UCSC Ensembl
chr2:64342138..64515517hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38173380
hg19173380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442709
Supporting Variants
Samples
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914986
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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