A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046054



Internal ID18788585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68001326..68052323hg38UCSC Ensembl
Innerchr11:67768796..67819790hg19UCSC Ensembl
Innerchr11:67525372..67576366hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3850998
hg1950995
hg1850995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1221n100
Supporting Variantsnssv3517715
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)nsv1046054
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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