A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248984



Internal ID22377147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13256312..13271792hg38UCSC Ensembl
Outerchr18:13256311..13271791hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3772n152
Supporting Variantsnssv14262445, nssv14262446
SamplesHG00733, HG00514
Known GenesLDLRAD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248984
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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