A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229167



Internal ID22371100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29285082..29294429hg38UCSC Ensembl
Outerchr17:27612100..27621447hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389348
hg199348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3524n152
Supporting Variantsnssv14261351
SamplesHG00513
Known GenesNUFIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229167
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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