A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528313



Internal ID15455606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58255557..58269877hg38UCSC Ensembl
Innerchr18:55922789..55937109hg19UCSC Ensembl
Innerchr18:54073769..54088089hg18UCSC Ensembl
Innerchr18:54073769..54088089hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3814321
hg1914321
hg1814321
hg1714321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704892
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528313
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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