A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256533



Internal ID22207519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57872207..57907044hg38UCSC Ensembl
Outerchr13:58446341..58481178hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3834838
hg1934838
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213760
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256533
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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