A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523238



Internal ID15103845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45243549..45268353hg38UCSC Ensembl
Innerchr18:42823514..42848318hg19UCSC Ensembl
Innerchr18:41077512..41102316hg18UCSC Ensembl
Innerchr18:41077512..41102316hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3824805
hg1924805
hg1824805
hg1724805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698965
Samples
Known GenesSLC14A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523238
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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