A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv606n100



Internal ID20152222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247664654..248568732hg38UCSC Ensembl
chr1:247827956..248732033hg19UCSC Ensembl
chr1:245894579..246798656hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38904079
hg19904078
hg18904078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014363, nsv1000142
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR14C36, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6, 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)dgv606n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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