A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv605n100



Internal ID20152221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247664654..248032454hg38UCSC Ensembl
chr1:247827956..248195756hg19UCSC Ensembl
chr1:245894579..246262379hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38367801
hg19367801
hg18367801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001590, nsv1000522, nsv1014801
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L5, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv605n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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