A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486703



Internal ID21144256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42041201..42047500hg38UCSC Ensembl
chr13:42615337..42621636hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177262
Samples
Known GenesDGKH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486703
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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