A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261865



Internal ID22297024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:27277698..27286091hg38UCSC Ensembl
Outerchr18:24857662..24866055hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382471
hg192471
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236918
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261865
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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