A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546588



Internal ID22415574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127182388..127182388hg38UCSC Ensembl
chr9:129944667..129944667hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403099
SamplesNA19240
Known GenesRALGPS1
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)nsv3546588
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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