A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448711



Internal ID226973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139258338..139258759hg38UCSC Ensembl
chr2:140015908..140016329hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925279
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448711
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