A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537332



Internal ID22406540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166481894..166481894hg38UCSC Ensembl
chr6:166895382..166895382hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426569
SamplesHG00514
Known GenesRPS6KA2
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)nsv3537332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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