A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286720



Internal ID22385112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3469473..3469663hg38UCSC Ensembl
chr16:3519473..3519663hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464620
SamplesHG00733
Known GenesNAA60
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)nsv3286720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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