A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400509



Internal ID179890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77331938..77331989hg38UCSC Ensembl
chr9:79946854..79946905hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025955
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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