A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439891



Internal ID218417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46616100..46712363hg38UCSC Ensembl
chr2:46843239..46939502hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3896264
hg1996264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913655
Samples
Known GenesCRIPT, PIGF, SOCS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439891
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