A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234104



Internal ID22372933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57488101..57514197hg38UCSC Ensembl
Outerchr18:55155333..55181429hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262429
SamplesHG00513
Known GenesONECUT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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