A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215411



Internal ID22361758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30820515..30821957hg38UCSC Ensembl
chr16:30831836..30833278hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3202n152
Supporting Variantsnssv14405848
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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