A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219034



Internal ID22364181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64018827..64042348hg38UCSC Ensembl
Outerchr20:62650180..62673701hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3823522
hg1923522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5391n152
Supporting Variantsnssv14266358
SamplesHG00514
Known GenesLINC00176, PRPF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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