A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453138



Internal ID231272
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 StatusM
Merged Variants
Supporting Variantsnssv16912013
Samples
Known GenesCALM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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