A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217560



Internal ID22363184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22994038..22994647hg38UCSC Ensembl
chr18:20574001..20574610hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290468
SamplesHG00514
Known GenesRBBP8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217560
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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