A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944276



Internal ID30186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196563618..196563620hg38UCSC Ensembl
chr3:196290489..196290491hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541741
Supporting Variants
Samples
Known GenesWDR53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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