A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712166



Internal ID19010447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24015250hg38UCSC Ensembl
Innerchr14:24429298..24484459hg19UCSC Ensembl
Innerchr14:23499138..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855162
hg1955162
hg1855162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042753
Supporting Variants
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)nssv3712166
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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