A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236575



Internal ID22373624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13254190..13273049hg38UCSC Ensembl
Outerchr18:13254189..13273048hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3772n152
Supporting Variantsnssv14262373, nssv14262374
SamplesHG00512, HG00513
Known GenesLDLRAD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236575
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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