A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039452



Internal ID19128671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24010488hg38UCSC Ensembl
Innerchr14:24429298..24479697hg19UCSC Ensembl
Innerchr14:23499138..23549537hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3850400
hg1950400
hg1850400
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1840n100
Supporting Variantsnssv3533847, nssv3533851, nssv3533852, nssv3533849, nssv3533846, nssv3533844, nssv3533850, nssv3533843, nssv3533848, nssv3533845
Samples
Known GenesDHRS4, DHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039452
Frequency
Sample Size11257
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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