A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512760



Internal ID289307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47879932..47913903hg38UCSC Ensembl
chr11:47901484..47935455hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3833972
hg1933972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045393
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512760
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