A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254880



Internal ID22187876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116649225..116679701hg38UCSC Ensembl
Outerchr11:116519942..116550418hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235392
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254880
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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