A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973642



Internal ID49810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110822191..110822242hg38UCSC Ensembl
chr5:110157890..110157941hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5393949
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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