A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257052



Internal ID22255746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:32583630..32604224hg38UCSC Ensembl
Outerchr13:33157767..33178361hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3820595
hg1920595
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216271
Supporting Variants
SamplesNA19238
Known GenesPDS5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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