A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967295



Internal ID22742230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77341691..77341691hg38UCSC Ensembl
chr9:79956607..79956607hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433788
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967295
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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