A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213786



Internal ID22360620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166578804..166594695hg38UCSC Ensembl
Outerchr6:166992292..167008183hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277739, nssv14277740, nssv14277741, nssv14277742
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesRPS6KA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213786
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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