A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049192



Internal ID19138411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24009673..24050041hg38UCSC Ensembl
Innerchr14:24478882..24519250hg19UCSC Ensembl
Innerchr14:23548722..23589090hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3840369
hg1940369
hg1840369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1848n100
Supporting Variantsnssv3712218
Samples
Known GenesDHRS4L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049192
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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