A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047869



Internal ID18790400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101506888..101624595hg38UCSC Ensembl
Innerchr14:101973225..102090932hg19UCSC Ensembl
Innerchr14:101042978..101160685hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38117708
hg19117708
hg18117708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533556
Samples
Known GenesDIO3, DIO3OS, MIR1247
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047869
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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