A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483386



Internal ID21140939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97212139..97329867hg38UCSC Ensembl
chr13:97864393..97982121hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38117729
hg19117729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180345
Samples
Known GenesMBNL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483386
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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