A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973166



Internal ID49492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123510423..123510474hg38UCSC Ensembl
chr5:122846117..122846168hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400477
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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