A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10251n54



Internal ID20143675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181006880..181206854hg38UCSC Ensembl
chr5:180433880..180633854hg19UCSC Ensembl
chr5:180366486..180566460hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38199975
hg19199975
hg18199975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600705, nsv600706
SamplesHGDP00473, HGDP00472
Known GenesBTNL9, LOC102577426, MIR8089, OR2V1, OR2V2, TRIM7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10251n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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