A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9145n152



Internal ID22824848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40601540..40601618hg38UCSC Ensembl
chr8:40459059..40459137hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3288225, nsv3283705
SamplesNA19240, HG00733
Known GenesZMAT4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9145n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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