A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239452



Internal ID22374421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143396646..143412874hg38UCSC Ensembl
Outerchr8:144478816..144495044hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279922, nssv14279929, nssv14279924, nssv14279927, nssv14279925, nssv14279928, nssv14279923, nssv14279926, nssv14279930
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239452
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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