A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483918



Internal ID21141471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123425101..123428100hg38UCSC Ensembl
chr12:123909648..123912647hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998790
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483918
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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