A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1000n145



Internal ID22814016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179300721..179505191hg38UCSC Ensembl
chr5:178727722..178932192hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38204471
hg19204471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114007, nsv3118076
Samplessample182, sample256, sample400
Known GenesADAMTS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1000n145
Frequency
Sample Size467
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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