A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485269



Internal ID21142822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42897247..42951891hg38UCSC Ensembl
chr13:43471383..43526027hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3854645
hg1954645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186160
Samples
Known GenesEPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485269
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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