A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277745



Internal ID22274986
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227953
Supporting Variants
SamplesNA19239
Known GenesRPS6KA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277745
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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