A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446367



Internal ID224691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16989895..16989971hg38UCSC Ensembl
chr2:17171162..17171238hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910114
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446367
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