A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234047



Internal ID22372914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:68739356..68779514hg38UCSC Ensembl
Outerchr8:69651591..69691749hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg382674
hg192674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280387, nssv14280384, nssv14280386, nssv14280388, nssv14280385, nssv14280389
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesC8orf34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234047
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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