A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212550



Internal ID22359761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30636216..30642692hg38UCSC Ensembl
Outerchr13:31210353..31216829hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386477
hg196477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256883, nssv14256884
SamplesNA19239, NA19240
Known GenesUSPL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212550
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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