A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284599



Internal ID22382965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16266087..16266162hg38UCSC Ensembl
chr6:16266318..16266393hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7756n152
Supporting Variantsnssv14411056, nssv14436550
SamplesNA19240, HG00514
Known GenesGMPR
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)nsv3284599
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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