A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9273n152



Internal ID22824976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100753037..100753094hg38UCSC Ensembl
chr8:101765265..101765322hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3285515, nsv3284821
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9273n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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