A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286774



Internal ID22385168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56568202..56568258hg38UCSC Ensembl
chr16:56602114..56602170hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3230n152
Supporting Variantsnssv14430633
SamplesHG00514
Known GenesMT4
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)nsv3286774
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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