A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177978



Internal ID22334734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166580887..166583191hg38UCSC Ensembl
chr6:166994375..166996679hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382305
hg192305
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387365, nssv14389468
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)nsv3177978
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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