A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532655



Internal ID22401982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166416061..166416061hg38UCSC Ensembl
chr6:166829549..166829549hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465897, nssv14426565
SamplesHG00733, HG00514
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)nsv3532655
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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