A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233253



Internal ID22372709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:97783252..97790350hg38UCSC Ensembl
Outerchr14:98249589..98256687hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259051
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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