A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256941



Internal ID22131932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:55191489..55250897hg38UCSC Ensembl
Outerchr13:55765624..55825032hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3859409
hg1959409
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228227
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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