A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050634



Internal ID19139853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24019791hg38UCSC Ensembl
Innerchr14:24444817..24489000hg19UCSC Ensembl
Innerchr14:23514657..23558840hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3844184
hg1944184
hg1844184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3528415
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)nsv1050634
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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