A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933848



Internal ID23301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53327530..53327863hg38UCSC Ensembl
chr3:53361557..53361890hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448469
Supporting Variants
Samples
Known GenesDCP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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