A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499742



Internal ID276702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67079902..67080791hg38UCSC Ensembl
chr11:66847373..66848262hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047613
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499742
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