A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051488



Internal ID18794019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5154247..5237260hg38UCSC Ensembl
Innerchr11:5175477..5258490hg19UCSC Ensembl
Innerchr11:5132053..5215066hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3883014
hg1983014
hg1883014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1041n100
Supporting Variantsnssv3520429
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)nsv1051488
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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