A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv904n54



Internal ID18993080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248081901..248275904hg38UCSC Ensembl
chr1:248245203..248439206hg19UCSC Ensembl
chr1:246311826..246505829hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38194004
hg19194004
hg18194004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549623, nsv549622
Samples1780854079_A
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv904n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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