A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705579



Internal ID18657174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247987730..248046731hg38UCSC Ensembl
Innerchr1:248151032..248210033hg19UCSC Ensembl
Innerchr1:246217655..246276656hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859002
hg1959002
hg1859002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008345
Supporting Variants
Samples
Known GenesOR2L13, OR2L1P, 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)nssv3705579
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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