A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9342n152



Internal ID22825045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128726819..128730230hg38UCSC Ensembl
chr8:129739065..129742476hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383412
hg193412
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3204127, nsv3199238
SamplesNA19240, HG00733, 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)dgv9342n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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