A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549632



Internal ID15990355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248341634..248626866hg38UCSC Ensembl
Innerchr1:248504936..248790167hg19UCSC Ensembl
Innerchr1:246571559..246856790hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38285233
hg19285232
hg18285232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv906n54
Supporting Variantsnssv739740
Samples
Known GenesOR14C36, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T29, OR2T3, OR2T34, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549632
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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