A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001494



Internal ID18744025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248450022..248525287hg38UCSC Ensembl
Innerchr1:248613323..248688588hg19UCSC Ensembl
Innerchr1:246679946..246755211hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875266
hg1975266
hg1875266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500817
Samples
Known GenesOR2G6, OR2T2, OR2T3, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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