A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv506n145



Internal ID22813522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68288629..68294374hg38UCSC Ensembl
chr17:66284770..66290515hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385746
hg195746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110515, nsv3116175, nsv3116411, nsv3112437, nsv3114125
Samplessample263, sample300, sample378, sample372, sample397, sample296, sample250
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv506n145
Frequency
Sample Size467
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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