A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188182



Internal ID22340125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26000305..26000435hg38UCSC Ensembl
chr8:25857821..25857951hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402249
SamplesNA19240
Known GenesEBF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188182
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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