A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547133



Internal ID22416111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87614438..87614438hg38UCSC Ensembl
chr16:87648044..87648044hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445985
SamplesHG00733
Known GenesJPH3
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)nsv3547133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer