A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5386n54



Internal ID20138810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:407766..816212hg38UCSC Ensembl
chr17:257557..719452hg19UCSC Ensembl
chr17:257873..666202hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38408447
hg19461896
hg18408330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574060, nsv574059
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5386n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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