A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185938



Internal ID20752978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123425214..123429439hg38UCSC Ensembl
chr12:123909761..123913986hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384226
hg194226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485009
Supporting Variants
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185938
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00615


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