A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047142



Internal ID18789673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105588548..105816193hg38UCSC Ensembl
Innerchr14:106054885..106282526hg19UCSC Ensembl
Innerchr14:105125930..105353571hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38227646
hg19227642
hg18227642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984n100
Supporting Variantsnssv3711398, nssv3711397
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)nsv1047142
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer