A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442787



Internal ID221202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187868081..187869401hg38UCSC Ensembl
chr2:188732808..188734128hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381321
hg191321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921965
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442787
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