A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496741



Internal ID273809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131964456..132088872hg38UCSC Ensembl
chr10:133777960..133902376hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38124417
hg19124417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042311
Samples
Known GenesBNIP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496741
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