A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947205



Internal ID22722707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35861691..35861789hg38UCSC Ensembl
chr13:36435828..36435926hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386774
Samples
Known GenesDCLK1, MIR548F5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947205
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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