A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938165



Internal ID22713543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42897247..42951888hg38UCSC Ensembl
chr13:43471383..43526024hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3854642
hg1954642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371120
Samples
Known GenesEPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938165
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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