A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248713



Internal ID22377060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3127636..3135780hg38UCSC Ensembl
Outerchr11:3148866..3157010hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254995
SamplesHG00733
Known GenesOSBPL5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248713
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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