A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048774



Internal ID18791305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:816471..900929hg38UCSC Ensembl
Innerchr11:816471..900929hg19UCSC Ensembl
Innerchr11:806471..890929hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3884459
hg1984459
hg1884459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518429
Samples
Known GenesCD151, CHID1, EFCAB4A, PNPLA2, POLR2L, TSPAN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048774
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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