A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484026



Internal ID21141579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69999075..71028657hg38UCSC Ensembl
chr13:70573207..71602789hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381029583
hg191029583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182981
Samples
Known GenesATXN8OS, KLHL1, LINC00348
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484026
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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