A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448907



Internal ID227162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69134254..69134979hg38UCSC Ensembl
chr2:69361386..69362111hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916039
Samples
Known GenesANTXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448907
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