A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450962



Internal ID229155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208275664..208276152hg38UCSC Ensembl
chr2:209140388..209140876hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928054
Samples
Known GenesPIKFYVE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450962
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