A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204468



Internal ID22353314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120476085..120476606hg38UCSC Ensembl
chr8:121488325..121488846hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466863
SamplesHG00733
Known GenesMTBP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204468
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer