A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227953



Internal ID22370287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166735653..166770723hg38UCSC Ensembl
Outerchr6:167149141..167184211hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382936
hg192936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277743, nssv14277744, nssv14277745
SamplesNA19238, NA19239, HG00513
Known GenesRPS6KA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227953
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer