A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256543



Internal ID22200527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:68347430..68449709hg38UCSC Ensembl
Outerchr13:68921562..69023841hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38102280
hg19102280
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219854
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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