A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257716



Internal ID22265958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100055801..100063098hg38UCSC Ensembl
Outerchr13:100708055..100715352hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244428
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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