A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052399



Internal ID19141618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54953335..55293044hg38UCSC Ensembl
Innerchr11:54720811..55060520hg19UCSC Ensembl
Innerchr11:54477387..54817096hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38339710
hg19339710
hg18339710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1163n100
Supporting Variantsnssv3519219
Samples
Known GenesTRIM48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052399
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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