A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239503



Internal ID22374431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33137692..33165337hg38UCSC Ensembl
Outerchr12:33290626..33318271hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256002
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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