A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248250



Internal ID22376928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43100113..43100198hg38UCSC Ensembl
chr3:43141605..43141690hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409324
SamplesNA19240
Known GenesPOMGNT2
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)nsv3248250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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