A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408002



Internal ID187332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9080960..9081011hg38UCSC Ensembl
chr2:9221089..9221140hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057981
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408002
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