A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224230



Internal ID22367721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11402832..11403310hg38UCSC Ensembl
chr19:11513508..11513986hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286002
SamplesHG00513
Known GenesRGL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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