A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442328



Internal ID220756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218448033..218448113hg38UCSC Ensembl
chr2:219312756..219312836hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928223
Samples
Known GenesVIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442328
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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