A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255673



Internal ID22117674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:336372..407456hg38UCSC Ensembl
Outerchr11:336372..407456hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388324
hg198324
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231621
Supporting Variants
SamplesHG00512
Known GenesB4GALNT4, PKP3, SIGIRR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255673
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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