A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048593



Internal ID18791124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5161946..5240240hg38UCSC Ensembl
Innerchr11:5183176..5261470hg19UCSC Ensembl
Innerchr11:5139752..5218046hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3878295
hg1978295
hg1878295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1041n100
Supporting Variantsnssv3518274
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)nsv1048593
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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