A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179262



Internal ID20746302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46209501..46217500hg38UCSC Ensembl
chr13:46783636..46791635hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482007
Supporting Variants
Samples
Known GenesLRRC63
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179262
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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