A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973142



Internal ID49478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123272757..123272777hg38UCSC Ensembl
chr5:122608451..122608471hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548544
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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