A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284779



Internal ID22383148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:141433621..141433683hg38UCSC Ensembl
chr6:141754758..141754820hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8132n152
Supporting Variantsnssv14464247
SamplesHG00733
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)nsv3284779
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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