A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241148



Internal ID22374888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67574116..67574593hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38478
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380507
SamplesNA19240
Known Genes
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)nsv3241148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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