A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945383



Internal ID22720860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123425279..123429397hg38UCSC Ensembl
chr12:123909826..123913944hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384119
hg194119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359920
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945383
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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