A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917786



Internal ID12597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127794264..127797211hg38UCSC Ensembl
chr2:128551838..128554785hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441895
Supporting Variants
Samples
Known GenesWDR33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917786
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00453


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