A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045802



Internal ID18788333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23945076..24015250hg38UCSC Ensembl
Innerchr14:24414285..24484459hg19UCSC Ensembl
Innerchr14:23484125..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3870175
hg1970175
hg1870175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1838n100
Supporting Variantsnssv3532338, nssv3532339
Samples
Known GenesDHRS4, DHRS4-AS1, 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)nsv1045802
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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