A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283097



Internal ID22381436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166783810..166784641hg38UCSC Ensembl
chr6:167197298..167198129hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8216n152
Supporting Variantsnssv14383159
SamplesNA19240
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)nsv3283097
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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