A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247741



Internal ID22376788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:84955408..84964719hg38UCSC Ensembl
Outerchr8:85867643..85876954hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280413, nssv14280415, nssv14280412, nssv14280414, nssv14280418, nssv14280417, nssv14280416
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247741
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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