A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036970



Internal ID18779501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23945076..23992633hg38UCSC Ensembl
Innerchr14:24414285..24461842hg19UCSC Ensembl
Innerchr14:23484125..23531682hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847558
hg1947558
hg1847558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1837n100
Supporting Variantsnssv3532337
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)nsv1036970
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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