A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045187



Internal ID18787718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5161946..5241392hg38UCSC Ensembl
Innerchr11:5183176..5262622hg19UCSC Ensembl
Innerchr11:5139752..5219198hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3879447
hg1979447
hg1879447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1041n100
Supporting Variantsnssv3508016
Samples
Known GenesHBB, HBD, OR51V1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045187
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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