A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389468



Internal ID22294931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166580887..166583191hg38UCSC Ensembl
chr6:166994375..166996679hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382305
hg192305
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177978
Supporting Variants
SamplesNA19240
Known GenesRPS6KA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389468
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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