A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059871



Internal ID18802402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:67146056..67550267hg38UCSC Ensembl
Innerchr18:64813293..65217504hg19UCSC Ensembl
Innerchr18:62964273..63368484hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38404212
hg19404212
hg18404212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3383n100
Supporting Variantsnssv3723122
Samples
Known GenesDSEL, LOC643542
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059871
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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