A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012524



Internal ID20579564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70079282..70219604hg38UCSC Ensembl
chr13:70653414..70793736hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38140323
hg19140323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494601
Supporting Variants
Samples
Known GenesATXN8OS, KLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012524
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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