A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045559



Internal ID18788090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..427836hg38UCSC Ensembl
Innerchr11:198510..427836hg19UCSC Ensembl
Innerchr11:188510..417836hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38229327
hg19229327
hg18229327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012n100
Supporting Variantsnssv3515340
Samples
Known GenesANO9, ATHL1, B4GALNT4, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PKP3, PSMD13, RIC8A, SIGIRR, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045559
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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