A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938168



Internal ID26175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125034195..125034243hg38UCSC Ensembl
chr3:124753039..124753087hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537173
Supporting Variants
Samples
Known GenesHEG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.43147


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