A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048292



Internal ID19137511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24005302..24044696hg38UCSC Ensembl
Innerchr14:24474511..24513905hg19UCSC Ensembl
Innerchr14:23544351..23583745hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3839395
hg1939395
hg1839395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1848n100
Supporting Variantsnssv3528449
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048292
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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