A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956762



Internal ID22731918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193666183..193666183hg38UCSC Ensembl
chr3:193383972..193383972hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423248
Samples
Known GenesOPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956762
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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