A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254071



Internal ID22254743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18368017..18382338hg38UCSC Ensembl
Outerchr11:18389564..18403885hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242341
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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