A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4766583



Internal ID20542443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123476147..123476147hg38UCSC Ensembl
chr12:123960694..123960694hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294864
Samples
Known GenesRILPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4766583
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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