A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447129



Internal ID225441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216386835..216386947hg38UCSC Ensembl
chr2:217251558..217251670hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925896
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447129
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