A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204127



Internal ID22353027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128726819..128730217hg38UCSC Ensembl
chr8:129739065..129742463hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9342n152
Supporting Variantsnssv14429681
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204127
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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