A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5491n54



Internal ID20138915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18921239..19014011hg38UCSC Ensembl
chr17:18824552..18917324hg19UCSC Ensembl
chr17:18765277..18858049hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3892773
hg1992773
hg1892773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574553, nsv574551
Samples
Known GenesFAM83G, PRPSAP2, SLC5A10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5491n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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