A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233073



Internal ID22372659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111903158..111908391hg38UCSC Ensembl
chr6:112224361..112229594hg19UCSC 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 Variantsnssv14411114
SamplesNA19240
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)nsv3233073
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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