A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254243



Internal ID22269933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1059473..1102841hg38UCSC Ensembl
Outerchr11:1059473..1096749hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238846
Supporting Variants
SamplesNA19239
Known GenesMUC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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