A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185279



Internal ID20752319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133288253..133664429hg38UCSC Ensembl
chr10:135101757..135477933hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38376177
hg19376177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6450661
Supporting Variants
Samples
Known GenesCALY, CYP2E1, ECHS1, FRG2B, FUOM, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185279
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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