A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220158



Internal ID22364941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80801422..80805749hg38UCSC Ensembl
Outerchr5:80097241..80101568hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382965
hg192965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276242, nssv14276240, nssv14276246, nssv14276245, nssv14276243, nssv14276244, nssv14276241
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMSH3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220158
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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