A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254752



Internal ID22271059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121176283..121186546hg38UCSC Ensembl
Outerchr11:121046992..121057255hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382056
hg192056
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245734
Supporting Variants
SamplesNA19239
Known GenesTECTA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254752
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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