A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483468



Internal ID21141021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25350101..25536500hg38UCSC Ensembl
chr13:25924239..26110638hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38186400
hg19186400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191779
Samples
Known GenesATP8A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483468
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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