A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253702



Internal ID22254606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42944631..42972413hg38UCSC Ensembl
Outerchr11:42966181..42993963hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg388858
hg198858
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243543
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253702
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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