A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052798



Internal ID18795329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5163316..5248100hg38UCSC Ensembl
Innerchr11:5184546..5269330hg19UCSC Ensembl
Innerchr11:5141122..5225906hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3884785
hg1984785
hg1884785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1041n100
Supporting Variantsnssv3515219
Samples
Known GenesHBB, HBBP1, 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)nsv1052798
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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