A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv999n145



Internal ID22814015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163793242..163796520hg38UCSC Ensembl
chr5:163220248..163223526hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg383279
hg193279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110260, nsv3111933
Samplessample100, sample131, sample6, sample275, sample162
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv999n145
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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