A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254151



Internal ID22220165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120328314..120330428hg38UCSC Ensembl
Outerchr11:120199023..120201137hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230920
Supporting Variants
SamplesHG00733
Known GenesTMEM136
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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