A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942720



Internal ID29144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189961609..189961659hg38UCSC Ensembl
chr3:189679398..189679448hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552758
Supporting Variants
Samples
Known GenesLEPREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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