A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256547



Internal ID22200530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:88011184..88087515hg38UCSC Ensembl
Outerchr13:88663439..88739770hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3876332
hg1976332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222810
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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