A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv166n100



Internal ID20151782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54741809..54804866hg38UCSC Ensembl
chr1:55207482..55270539hg19UCSC Ensembl
chr1:54980070..55043127hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3863058
hg1963058
hg1863058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005734, nsv1005393
Samples
Known GenesMROH7-TTC4, PARS2, TTC22, TTC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv166n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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