A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231137



Internal ID22372146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119473133..119511402hg38UCSC Ensembl
Outerchr11:119343844..119382113hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381331
hg191331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255759, nssv14255758
SamplesHG00732, HG00513
Known GenesUSP2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231137
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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