A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475917



Internal ID21133470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43415856..43416378hg38UCSC Ensembl
chr13:43989992..43990514hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184287
Samples
Known GenesENOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475917
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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