A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243980



Internal ID22375728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43413595..43440353hg38UCSC Ensembl
Outerchr13:43987731..44014489hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257409
SamplesHG00732
Known GenesENOX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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