A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518479



Internal ID15445772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45508673..45512415hg38UCSC Ensembl
Innerchr18:43088638..43092380hg19UCSC Ensembl
Innerchr18:41342636..41346378hg18UCSC Ensembl
Innerchr18:41342636..41346378hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383743
hg193743
hg183743
hg173743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695916
Samples
Known GenesSLC14A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518479
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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