A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283769



Internal ID22382122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113621748..113621827hg38UCSC Ensembl
chr6:113942950..113943029hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8065n152
Supporting Variantsnssv14436671, nssv14411118
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283769
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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