A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944708



Internal ID30487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181992754..181999972hg38UCSC Ensembl
chr3:181710542..181717760hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg387219
hg197219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443015
Supporting Variants
Samples
Known GenesLOC100996490
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944708
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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