A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248901



Internal ID22377127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55517444..55519606hg38UCSC Ensembl
Outerchr16:55551356..55553518hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385956
hg195956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260705
SamplesNA19239
Known GenesLPCAT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248901
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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