A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973960



Internal ID50016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133939545..133939545hg38UCSC Ensembl
chr5:133275236..133275236hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545644
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003124


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