A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193143



Internal ID22343627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128992529..128992604hg38UCSC Ensembl
chr8:130004775..130004850hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457142
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193143
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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