A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238311



Internal ID22374117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60008759..60061239hg38UCSC Ensembl
Outerchr11:59776232..59828712hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381661
hg191661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255699, nssv14255700
SamplesHG00512, HG00513
Known GenesMS4A3, OOSP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238311
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer