A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915730



Internal ID22690948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125912262..125912370hg38UCSC Ensembl
chr11:125782157..125782265hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363930
Samples
Known GenesDDX25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915730
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