A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216143



Internal ID22362239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:83970334..84024184hg38UCSC Ensembl
Outerchr11:83681377..83735227hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3853851
hg1953851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253546
SamplesHG00732
Known GenesDLG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216143
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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