A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018474



Internal ID18761007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14184490hg38UCSC Ensembl
Innerchr5:13798819..14184599hg19UCSC Ensembl
Innerchr5:13851819..14237599hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38385781
hg19385781
hg18385781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5577n100
Supporting Variantsnssv3638295, nssv3638296
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018474
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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