A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287381



Internal ID22385784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81517161..81517254hg38UCSC Ensembl
chr16:81550766..81550859hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457328
SamplesHG00733
Known GenesCMIP
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)nsv3287381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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