A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912543



Internal ID22687759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:109962048..109962195hg38UCSC Ensembl
chr11:109832774..109832921hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360806
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912543
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer