A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453022



Internal ID231162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240090298..240091767hg38UCSC Ensembl
chr2:241029715..241031184hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926193
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453022
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