A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051739



Internal ID18794270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101504179..101587243hg38UCSC Ensembl
Innerchr14:101970516..102053580hg19UCSC Ensembl
Innerchr14:101040269..101123333hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3883065
hg1983065
hg1883065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1978n100
Supporting Variantsnssv3533553
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)nsv1051739
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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