A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5907917



Internal ID22683127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124208803..124225727hg38UCSC Ensembl
chr11:124079510..124096432hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3816925
hg1916923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369345
Samples
Known GenesOR8G2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5907917
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