A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179822



Internal ID22335766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62356326..62356492hg38UCSC Ensembl
chr9:46667627..46667793hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439211
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179822
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