A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451650



Internal ID229827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216691840..216692400hg38UCSC Ensembl
chr2:217556563..217557123hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925910
Samples
Known GenesIGFBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451650
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