A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238284



Internal ID22374112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68643905..68667679hg38UCSC Ensembl
Outerchr11:68411373..68435147hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255175, nssv14255176
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238284
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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