A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287059



Internal ID22385459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87408448..87408580hg38UCSC Ensembl
chr6:88118166..88118298hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8002n152
Supporting Variantsnssv14461589
SamplesHG00733
Known GenesC6orf165
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)nsv3287059
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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