A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051345



Internal ID19140564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24020217hg38UCSC Ensembl
Innerchr14:24429298..24489426hg19UCSC Ensembl
Innerchr14:23499138..23559266hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860129
hg1960129
hg1860129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839n100
Supporting Variantsnssv3712168, nssv3712167, nssv3533861
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)nsv1051345
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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