A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052857



Internal ID19142076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24010166..24044696hg38UCSC Ensembl
Innerchr14:24479375..24513905hg19UCSC Ensembl
Innerchr14:23549215..23583745hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834531
hg1934531
hg1834531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1848n100
Supporting Variantsnssv3712220, nssv3528454, nssv3528456, nssv3528455
Samples
Known GenesDHRS4L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052857
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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