A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185067



Internal ID20752107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99895101..99897000hg38UCSC Ensembl
chr13:100547355..100549254hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485354
Supporting Variants
Samples
Known GenesCLYBL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185067
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00019


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