A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254302



Internal ID22254842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:79138240..79151224hg38UCSC Ensembl
Outerchr11:78849285..78862269hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233810
Supporting Variants
SamplesNA19238
Known GenesTENM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254302
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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