A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178118



Internal ID20745158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123426001..123429400hg38UCSC Ensembl
chr12:123910548..123913947hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493316
Supporting Variants
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178118
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0007


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