A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453558



Internal ID231677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205431329..205431758hg38UCSC Ensembl
chr2:206296053..206296482hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927968
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453558
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