A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220744



Internal ID22365352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57671408..57723734hg38UCSC Ensembl
Outerchr13:58245542..58297868hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3852327
hg1952327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256942
SamplesHG00513
Known GenesPCDH17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220744
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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