A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701368



Internal ID15091334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45168400..45894830hg38UCSC Ensembl
Innerchr18:42748365..43474795hg19UCSC Ensembl
Innerchr18:41002363..41728793hg18UCSC Ensembl
Innerchr18:41002363..41728793hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38726431
hg19726431
hg18726431
hg17726431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525268
Supporting Variants
Samples
Known GenesEPG5, SIGLEC15, SLC14A1, SLC14A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701368
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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