A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980349



Internal ID22755284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66980741..66980741hg38UCSC Ensembl
chr13:67554873..67554873hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370558
Samples
Known GenesPCDH9, PCDH9-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980349
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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