A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443993



Internal ID222375
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 StatusM
Merged Variants
Supporting Variantsnssv16923177
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443993
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