A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544926



Internal ID319021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128038351..128038385hg38UCSC Ensembl
chr2:128795925..128795959hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920013
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544926
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