A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048991



Internal ID18791522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..365502hg38UCSC Ensembl
Innerchr11:198510..365502hg19UCSC Ensembl
Innerchr11:188510..355502hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38166993
hg19166993
hg18166993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012n100
Supporting Variantsnssv3519790
Samples
Known GenesATHL1, BET1L, IFITM1, IFITM2, IFITM3, 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)nsv1048991
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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