A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv616n100



Internal ID20152232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248436984..248574134hg38UCSC Ensembl
chr1:248600285..248737435hg19UCSC Ensembl
chr1:246666908..246804058hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38137151
hg19137151
hg18137151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006552, nsv1000763
Samples
Known GenesOR2G6, OR2T2, OR2T29, OR2T3, OR2T34, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv616n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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