A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262406



Internal ID22184978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78915882..78925589hg38UCSC Ensembl
Outerchr18:76675882..76685589hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234795
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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