A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv643n100



Internal ID20152259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248650779..248703931hg38UCSC Ensembl
chr1:248814080..248867232hg19UCSC Ensembl
chr1:246880703..246933855hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3853153
hg1953153
hg1853153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007698, nsv1011254
Samples
Known GenesOR14I1, OR2T27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv643n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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