A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173853



Internal ID22332517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136905981..136906068hg38UCSC Ensembl
chr9:139800433..139800520hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439294
SamplesHG00733
Known GenesTRAF2
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)nsv3173853
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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