A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443232



Internal ID221633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122918645..123008050hg38UCSC Ensembl
chr2:123676221..123765626hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3889406
hg1989406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917670
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443232
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