A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052637



Internal ID19141856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24019944hg38UCSC Ensembl
Innerchr14:24444817..24489153hg19UCSC Ensembl
Innerchr14:23514657..23558993hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3844337
hg1944337
hg1844337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3528418
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)nsv1052637
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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