A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6547n152



Internal ID22822250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34529994..34530329hg38UCSC Ensembl
chr4:34531616..34531951hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523033, nsv3186772
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6547n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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