A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239306



Internal ID22374386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68624941..68648008hg38UCSC Ensembl
Outerchr11:68392409..68415476hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255067, nssv14255061, nssv14255062, nssv14255063, nssv14255064, nssv14255065, nssv14255066, nssv14255068
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239306
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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