A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935941



Internal ID22711289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42094283..42107019hg38UCSC Ensembl
chr13:42668419..42681155hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3812737
hg1912737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384399
Samples
Known GenesDGKH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935941
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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