A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249069



Internal ID22377168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4092043..4108587hg38UCSC Ensembl
Outerchr20:4072690..4089234hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265806, nssv14265808, nssv14265811, nssv14265812, nssv14265809, nssv14265807, nssv14265810, nssv14265805
SamplesHG00512, NA19238, 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)nsv3249069
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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