A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286228



Internal ID22384616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56397704..56397902hg38UCSC Ensembl
chr16:56431616..56431814hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430631
SamplesHG00514
Known GenesAMFR
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)nsv3286228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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