A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934793



Internal ID23929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53819556..53819607hg38UCSC Ensembl
chr3:53853583..53853634hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446187
Supporting Variants
Samples
Known GenesCHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934793
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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