A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286458



Internal ID22384850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497451hg38UCSC Ensembl
chr9:123257024..123259729hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382706
hg192706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9735n152
Supporting Variantsnssv14391560
SamplesNA19240
Known GenesCDK5RAP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3286458
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