A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232509



Internal ID22372523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59929077..59929179hg38UCSC Ensembl
chr20:58504132..58504234hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454418
SamplesHG00733
Known GenesSYCP2
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)nsv3232509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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