A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284827



Internal ID22383196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159507622..159507689hg38UCSC Ensembl
chr6:159928654..159928721hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455240
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)nsv3284827
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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