A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449142



Internal ID22507012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83693775..83693775hg38UCSC Ensembl
chr9:86308690..86308690hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957589
Supporting Variants
Samples
Known GenesUBQLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449142
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