A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450695



Internal ID228895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213763802..213808566hg38UCSC Ensembl
chr2:214628526..214673290hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3844765
hg1944765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924889
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450695
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