A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976459



Internal ID51694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161879645..161879675hg38UCSC Ensembl
chr5:161306651..161306681hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408853
Supporting Variants
Samples
Known GenesGABRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976459
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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