A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971963



Internal ID48665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112756399..112759986hg38UCSC Ensembl
chr5:112092096..112095683hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg383588
hg193588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460717
Supporting Variants
Samples
Known GenesAPC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer