A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912013



Internal ID8761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47168804..47168927hg38UCSC Ensembl
chr2:47395943..47396066hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453138
Supporting Variants
Samples
Known GenesCALM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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