A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923177



Internal ID16213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188599940..188721787hg38UCSC Ensembl
chr2:189464667..189586514hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38121848
hg19121848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443993
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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