A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248224



Internal ID22376920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49201696..49204331hg38UCSC Ensembl
Outerchr18:46728066..46730701hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262380, nssv14261928, nssv14262381, nssv14261925, nssv14261924, nssv14261927, nssv14262379, nssv14262378, nssv14261926
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDYM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248224
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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