A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028468



Internal ID19117686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:46209185..46382538hg38UCSC Ensembl
Innerchr5:46209287..46382640hg19UCSC Ensembl
Innerchr5:46245044..46418397hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38173354
hg19173354
hg18173354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5651n100
Supporting Variantsnssv3638030
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028468
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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