A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187590



Internal ID20754630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108216101..108222200hg38UCSC Ensembl
chr13:108868449..108874548hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492902
Supporting Variants
Samples
Known GenesABHD13, LIG4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00097


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