A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480709



Internal ID258208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12324344..12330057hg38UCSC Ensembl
chr10:12366343..12372056hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385714
hg195714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030741
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480709
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