A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488414



Internal ID265726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77344754..77346403hg38UCSC Ensembl
chr9:79959670..79961319hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025957
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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