A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv497n145



Internal ID22813513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48614873..48617349hg38UCSC Ensembl
chr17:46692235..46694711hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114308, nsv3117960
Samplessample214, sample361, sample285
Known GenesHOXB8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv497n145
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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