A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518642



Internal ID15099249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:196829..331506hg38UCSC Ensembl
Innerchr18:196829..331506hg19UCSC Ensembl
Innerchr18:186829..321506hg18UCSC Ensembl
Innerchr18:186829..321506hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38134678
hg19134678
hg18134678
hg17134678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696092
Samples
Known GenesCOLEC12, THOC1, USP14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518642
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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