A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5502n54



Internal ID20138926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20899465..20969018hg38UCSC Ensembl
chr17:20802778..20872331hg19UCSC Ensembl
chr17:20743370..20812923hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3869554
hg1969554
hg1869554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574597, nsv574598
SamplesHGDP00099
Known GenesLOC440416
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5502n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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