A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036997



Internal ID18779528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5222468..5266560hg38UCSC Ensembl
Innerchr11:5243698..5287790hg19UCSC Ensembl
Innerchr11:5200274..5244366hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3844093
hg1944093
hg1844093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3504593
Samples
Known GenesHBB, HBBP1, HBD, HBG1, HBG2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036997
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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