A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255175



Internal ID22144591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68643905..68667679hg38UCSC Ensembl
Outerchr11:68411373..68435147hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238284
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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