A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv906n54



Internal ID20134330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248330209..248694378hg38UCSC Ensembl
chr1:248493511..248857679hg19UCSC Ensembl
chr1:246560134..246924302hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38364170
hg19364169
hg18364169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549631, nsv549632
Samples
Known GenesOR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv906n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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