A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285799



Internal ID22384180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166783816..166784614hg38UCSC Ensembl
chr6:167197304..167198102hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8216n152
Supporting Variantsnssv14435770
SamplesHG00514
Known GenesRPS6KA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285799
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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