A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242351



Internal ID22375250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:24970316..25000443hg38UCSC Ensembl
Outerchr9:24970314..25000441hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282332, nssv14282333, nssv14282331, nssv14282326, nssv14282334, nssv14282330, nssv14282327, nssv14282328, nssv14282329
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)nsv3242351
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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