A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243116



Internal ID22375473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184034160..184034211hg38UCSC Ensembl
chr3:183751948..183751999hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408985
SamplesNA19240
Known GenesHTR3D
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)nsv3243116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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