A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062587



Internal ID18805118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66321439..66704482hg38UCSC Ensembl
Innerchr18:63988676..64371719hg19UCSC Ensembl
Innerchr18:62139656..62522699hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38383044
hg19383044
hg18383044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3380n100
Supporting Variantsnssv3565649
Samples
Known GenesCDH19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062587
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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