A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181108



Internal ID20748148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31151681..31314085hg38UCSC Ensembl
chr13:31725818..31888222hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38162405
hg19162405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475875
Supporting Variants
Samples
Known GenesB3GALTL, HSPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181108
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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