A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518594



Internal ID15099201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37322384..37325148hg38UCSC Ensembl
Innerchr18:34902347..34905111hg19UCSC Ensembl
Innerchr18:33156345..33159109hg18UCSC Ensembl
Innerchr18:33156345..33159109hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382765
hg192765
hg182765
hg172765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696041
Samples
Known GenesCELF4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518594
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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