A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3230n152



Internal ID22818933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56568200..56568258hg38UCSC Ensembl
chr16:56602112..56602170hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3287246, nsv3286774
SamplesHG00733, HG00514
Known GenesMT4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3230n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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