A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7879n152



Internal ID22823582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44645746..44646063hg38UCSC Ensembl
chr6:44613483..44613800hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523096, nsv3177938
SamplesNA19239, HG00731, 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)dgv7879n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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