A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924606



Internal ID17155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215979929..215980104hg38UCSC Ensembl
chr2:216844652..216844827hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441488
Supporting Variants
Samples
Known GenesMREG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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