A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244232



Internal ID22375802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87119963..87152657hg38UCSC Ensembl
Outerchr16:87153569..87186263hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259863, nssv14259862
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244232
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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