A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445573



Internal ID223919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16818297..16819913hg38UCSC Ensembl
chr2:16999564..17001180hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910800
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445573
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