A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178522



Internal ID20745562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12873601..12879700hg38UCSC Ensembl
chr12:13026535..13032634hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464161
Supporting Variants
Samples
Known GenesRPL13AP20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178522
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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