A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216271



Internal ID22362313
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257052, nssv14257053
SamplesNA19238, NA19240
Known GenesPDS5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216271
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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