A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498703



Internal ID275688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76608202..76608268hg38UCSC Ensembl
chr11:76319246..76319312hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048557
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498703
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