A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552764



Internal ID15993487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..470331hg38UCSC Ensembl
Innerchr11:198510..470331hg19UCSC Ensembl
Innerchr11:188510..460331hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38271822
hg19271822
hg18271822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1505n54
Supporting Variantsnssv763047
Samples
Known GenesANO9, ATHL1, B4GALNT4, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PKP3, PSMD13, PTDSS2, RIC8A, SIGIRR, SIRT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552764
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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