A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4886n152



Internal ID22820589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167875962..167876098hg38UCSC Ensembl
chr2:168732472..168732608hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280932, nsv3281902
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4886n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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