A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283517



Internal ID22381864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13198203..13198283hg38UCSC Ensembl
chr16:13292060..13292140hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3155n152
Supporting Variantsnssv14431469
SamplesHG00514
Known GenesSHISA9
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)nsv3283517
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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