A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256536



Internal ID22210380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:64762979..64830460hg38UCSC Ensembl
Outerchr13:65337111..65404592hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3867482
hg1967482
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226614
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256536
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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