A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508684



Internal ID285371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81824066..81893162hg38UCSC Ensembl
chr13:82398201..82467297hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3869097
hg1969097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692927
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508684
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