A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043191



Internal ID19132410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24031424hg38UCSC Ensembl
Innerchr14:24444817..24500633hg19UCSC Ensembl
Innerchr14:23514657..23570473hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855817
hg1955817
hg1855817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1841n100
Supporting Variantsnssv3528424, nssv3528423
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043191
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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