A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184110



Internal ID22337968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92872187..92872446hg38UCSC Ensembl
chr9:95634469..95634728hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383313, nssv14439572
SamplesNA19240, HG00733
Known GenesZNF484
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184110
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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