A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562908



Internal ID335848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78521974..78522025hg38UCSC Ensembl
chr13:79096109..79096160hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg384021
hg194021
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693272
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562908
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