A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047567



Internal ID18790098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67979689..68052323hg38UCSC Ensembl
Innerchr11:67747160..67819790hg19UCSC Ensembl
Innerchr11:67503736..67576366hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3872635
hg1972631
hg1872631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1221n100
Supporting Variantsnssv3514316, nssv3518458
Samples
Known GenesALDH3B1, MIR4691, MIR6753, MIR7113, NDUFS8, TCIRG1, UNC93B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047567
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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