A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215147



Internal ID20782187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180684834..180791723hg38UCSC Ensembl
chr5:180111834..180218723hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38106890
hg19106890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411875
Supporting Variants
Samples
Known GenesMGAT1, OR2Y1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0008


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