A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450345



Internal ID228554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43858183..43860077hg38UCSC Ensembl
chr2:44085322..44087216hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911986
Samples
Known GenesABCG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450345
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