A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5851006



Internal ID22625941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120378568..120379567hg38UCSC Ensembl
chr11:120249277..120250276hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17459853
Samples
Known GenesARHGEF12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5851006
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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