A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040467



Internal ID18782998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23954823..23989722hg38UCSC Ensembl
Innerchr14:24424032..24458931hg19UCSC Ensembl
Innerchr14:23493872..23528771hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834900
hg1934900
hg1834900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1837n100
Supporting Variantsnssv3533820, nssv3533821
Samples
Known GenesDHRS4, DHRS4-AS1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040467
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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