A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6481457



Internal ID21139010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99083222..99114521hg38UCSC Ensembl
chr13:99735476..99766775hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3831300
hg1931300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185500
Samples
Known GenesDOCK9, DOCK9-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6481457
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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