A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5476n54



Internal ID18997652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16491622..16492366hg38UCSC Ensembl
chr17:16394936..16395680hg19UCSC Ensembl
chr17:16335661..16336405hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38745
hg19745
hg18745
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574488, nsv574492
Samples
Known GenesFAM211A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5476n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss4
Observed Complex0
Frequencyn/a


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