A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253984



Internal ID22270838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:347010..379735hg38UCSC Ensembl
Outerchr11:347010..379735hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384036
hg194036
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247205
Supporting Variants
SamplesNA19239
Known GenesB4GALNT4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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