A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5191n54



Internal ID22773086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75522940..75541512hg38UCSC Ensembl
chr16:75556838..75575410hg19UCSC Ensembl
chr16:74114339..74132911hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3818573
hg1918573
hg1818573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572992, nsv572993
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5191n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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