A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243109



Internal ID22375471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111903223..111908455hg38UCSC Ensembl
chr6:112224426..112229658hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385233
hg195233
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8061n152
Supporting Variantsnssv14461763
SamplesHG00733
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)nsv3243109
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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