A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545099



Internal ID319175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30357191..30357200hg38UCSC Ensembl
chr2:30580057..30580066hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910402
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer