A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448320



Internal ID226599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36608964..36613514hg38UCSC Ensembl
chr2:36836107..36840657hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg384551
hg194551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912178
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448320
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