A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257409



Internal ID22209256
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243980
Supporting Variants
SamplesHG00732
Known GenesENOX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257409
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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