A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255711



Internal ID22117714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:78759080..78775619hg38UCSC Ensembl
Outerchr11:78470125..78486664hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249543
Supporting Variants
SamplesHG00512
Known GenesTENM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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