A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7891n152



Internal ID22823594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50484753..50485097hg38UCSC Ensembl
chr6:50452466..50452810hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523103, nsv3189279
SamplesNA19238, NA19239, HG00732, NA19240
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)dgv7891n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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