A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199995



Internal ID22349507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100425463..100427710hg38UCSC Ensembl
chr8:101437691..101439938hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg382248
hg192248
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14438555, nssv14438554
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)nsv3199995
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