A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5389n54



Internal ID20138813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:633174..937565hg38UCSC Ensembl
chr17:536414..840805hg19UCSC Ensembl
chr17:483164..787555hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38304392
hg19304392
hg18304392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574089, nsv574076
Samples1782681079_A
Known GenesDBIL5P, 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)dgv5389n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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