A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238550



Internal ID22374186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32596633..32597188hg38UCSC Ensembl
chr13:33170770..33171325hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401205
SamplesNA19240
Known GenesPDS5B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238550
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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