A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239659



Internal ID22374479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170750898..170751155hg38UCSC Ensembl
chr1:170720039..170720296hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432298
SamplesHG00514
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)nsv3239659
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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