A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043384



Internal ID18785915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105588548..105854269hg38UCSC Ensembl
Innerchr14:106054885..106320374hg19UCSC Ensembl
Innerchr14:105125930..105391419hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38265722
hg19265490
hg18265490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984n100
Supporting Variantsnssv3711400
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)nsv1043384
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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