A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048912



Internal ID19138131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55671844..55841844hg38UCSC Ensembl
Innerchr11:55439320..55609320hg19UCSC Ensembl
Innerchr11:55195896..55365896hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38170001
hg19170001
hg18170001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1204n100
Supporting Variantsnssv3519715
Samples
Known GenesOR5D13, OR5D14, OR5D16, OR5D18, OR5L1, OR5L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048912
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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