A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048108



Internal ID18790639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105612353..105829422hg38UCSC Ensembl
Innerchr14:106078690..106295756hg19UCSC Ensembl
Innerchr14:105149735..105366801hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38217070
hg19217067
hg18217067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984n100
Supporting Variantsnssv3711410, nssv3711412, nssv3711408, nssv3711411, nssv3711409
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)nsv1048108
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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