A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv481n145



Internal ID22813497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18884804..18890967hg38UCSC Ensembl
chr17:18788117..18794280hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386164
hg196164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110596, nsv3113487
Samplessample146, sample216
Known GenesPRPSAP2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv481n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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