A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004090



Internal ID18746621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248008262..248053127hg38UCSC Ensembl
Innerchr1:248171564..248216429hg19UCSC Ensembl
Innerchr1:246238187..246283052hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844866
hg1944866
hg1844866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705581
Samples
Known GenesOR2L13, OR2L2, OR2L5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004090
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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