A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048401



Internal ID19137620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54554865..54903856hg38UCSC Ensembl
Innerchr11:51215424..51564415hg19UCSC Ensembl
Innerchr11:51072000..51420991hg18UCSC Ensembl
Cytoband11p11.11
Allele length
AssemblyAllele length
hg38348992
hg19348992
hg18348992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1155n100
Supporting Variantsnssv3522024, nssv3712386, nssv3504464
Samples
Known GenesOR4A5, OR4C46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048401
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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