A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254312



Internal ID22117212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86254552..86280198hg38UCSC Ensembl
Outerchr11:85965594..85991240hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231708
Supporting Variants
SamplesHG00512
Known GenesEED, MIR6755
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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