A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236452



Internal ID22373580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28904791..28909226hg38UCSC Ensembl
chr13:29478928..29483363hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384436
hg194436
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401161
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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