A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052484



Internal ID18795015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..307036hg38UCSC Ensembl
Innerchr11:198510..307036hg19UCSC Ensembl
Innerchr11:188510..297036hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38108527
hg19108527
hg18108527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514935
Samples
Known GenesATHL1, BET1L, IFITM5, MIR6743, NLRP6, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052484
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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