A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3232n152



Internal ID22818935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57218709..57219033hg38UCSC Ensembl
chr16:57252621..57252945hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3520973, nsv3188028
SamplesHG00512, HG00513, HG00514
Known GenesRSPRY1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3232n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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