A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236230



Internal ID22373521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:102533582..102553854hg38UCSC Ensembl
Outerchr8:103545810..103566082hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280572, nssv14280569, nssv14280573, nssv14280568, nssv14280571, nssv14280570
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00514
Known GenesODF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236230
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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