A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549641



Internal ID15990364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248450347..248622144hg38UCSC Ensembl
Innerchr1:248613648..248785445hg19UCSC Ensembl
Innerchr1:246680271..246852068hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38171798
hg19171798
hg18171798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739771
Samples
Known GenesOR2G6, OR2T10, OR2T2, OR2T29, OR2T3, OR2T34, OR2T5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549641
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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