A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283483



Internal ID22381830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13064548..13064598hg38UCSC Ensembl
chr6:13064780..13064830hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411047
SamplesNA19240
Known GenesPHACTR1
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)nsv3283483
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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