A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445944



Internal ID224279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162973904..163028421hg38UCSC Ensembl
chr2:163830414..163884931hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3854518
hg1954518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921440
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445944
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