A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254272



Internal ID22131012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1891015..1943801hg38UCSC Ensembl
Outerchr11:1912245..1965031hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235476
Supporting Variants
SamplesHG00513
Known GenesLSP1, TNNT3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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