A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976599



Internal ID51789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165233533..165233584hg38UCSC Ensembl
chr5:164660539..164660590hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403435
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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