A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050036



Internal ID19139255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24018922hg38UCSC Ensembl
Innerchr14:24444817..24488131hg19UCSC Ensembl
Innerchr14:23514657..23557971hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843315
hg1943315
hg1843315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3528412, nssv3528411
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)nsv1050036
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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