A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5618n54



Internal ID20139042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46032108..46330700hg38UCSC Ensembl
chr17:44109474..44408066hg19UCSC Ensembl
chr17:41465321..41763827hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38298593
hg19298593
hg18298507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575152, nsv575156, nsv575165, nsv575149, nsv575171, nsv575169, nsv575170, nsv575164, nsv575157, nsv575166, nsv575159, nsv575155, nsv575158, nsv575150, nsv575144
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5618n54
Frequency
Sample Size17421
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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