A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435562



Internal ID214203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211027480..211036968hg38UCSC Ensembl
chr2:211892204..211901692hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg389489
hg199489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923074
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435562
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