A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912493



Internal ID22687709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114485451..114485782hg38UCSC Ensembl
chr9:117247731..117248062hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443772
Samples
Known GenesDFNB31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912493
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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