A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940681



Internal ID22716093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718993..46719062hg38UCSC Ensembl
chr13:47293128..47293197hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386269
Samples
Known GenesLRCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940681
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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