A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3289034



Internal ID22387454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67325227..67325625hg38UCSC Ensembl
chr9:47267377..47267775hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439228
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3289034
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