A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944988



Internal ID22720460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99607499..99616999hg38UCSC Ensembl
chr13:100259753..100269253hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377269
Samples
Known GenesCLYBL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944988
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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