A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230043



Internal ID22371695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116811999..116812093hg38UCSC Ensembl
chr8:117824238..117824332hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9311n152
Supporting Variantsnssv14439133
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)nsv3230043
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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