A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256546



Internal ID22198540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:81890338..81930548hg38UCSC Ensembl
Outerchr13:82464473..82504683hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3840211
hg1940211
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230058
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256546
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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