A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6270n152



Internal ID22821973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179727890..179728039hg38UCSC Ensembl
chr3:179445678..179445827hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281934, nsv3280775
SamplesNA19240, HG00733, HG00514
Known GenesUSP13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6270n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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