A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478648



Internal ID21136201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112529181..112724025hg38UCSC Ensembl
chr13:113183495..113378339hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38194845
hg19194845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185383
Samples
Known GenesATP11A, C13orf35, TUBGCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478648
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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