A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231431



Internal ID22372228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85813859..85850915hg38UCSC Ensembl
Outerchr16:85847465..85884521hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260312, nssv14260310, nssv14260311, nssv14260313
SamplesHG00512, NA19238, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231431
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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