A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940298



Internal ID27576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:165729997..165943662hg38UCSC Ensembl
chr3:165447785..165661450hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38213666
hg19213666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449944
Supporting Variants
Samples
Known GenesBCHE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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