A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046815



Internal ID19136034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23957385..24019344hg38UCSC Ensembl
Innerchr14:24426594..24488553hg19UCSC Ensembl
Innerchr14:23496434..23558393hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3861960
hg1961960
hg1861960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839n100
Supporting Variantsnssv3533842
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)nsv1046815
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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