A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284717



Internal ID22383084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8953711..8953906hg38UCSC Ensembl
chr16:9047568..9047763hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3144n152
Supporting Variantsnssv14404813, nssv14430328
SamplesNA19240, HG00514
Known GenesUSP7
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)nsv3284717
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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