A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511746



Internal ID288316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77980380..77980492hg38UCSC Ensembl
chr13:78554515..78554627hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693228
Samples
Known GenesLINC01069
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511746
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