A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247234



Internal ID22376655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111903179..111908412hg38UCSC Ensembl
chr6:112224382..112229615hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385234
hg195234
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8061n152
Supporting Variantsnssv14436664
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247234
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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