A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054768



Internal ID18797299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..18976182hg38UCSC Ensembl
Innerchr14:19002112..19562127hg19UCSC Ensembl
Innerchr14:18072112..18632127hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38750548
hg19560016
hg18560016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3525696, nssv3713333
Samples
Known GenesLOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054768
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