A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502362



Internal ID279230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74846824..75004492hg38UCSC Ensembl
chr13:75420961..75578629hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38157669
hg19157669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134n206
Supporting Variantsnssv17691796
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502362
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