A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050083



Internal ID18792614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105563288..105829422hg38UCSC Ensembl
Innerchr14:106029625..106295756hg19UCSC Ensembl
Innerchr14:105100670..105366801hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38266135
hg19266132
hg18266132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984n100
Supporting Variantsnssv3711396
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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