A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523158



Internal ID15103765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58061617..58062270hg38UCSC Ensembl
Innerchr18:55728849..55729502hg19UCSC Ensembl
Innerchr18:53879847..53880500hg18UCSC Ensembl
Innerchr18:53879847..53880500hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38654
hg19654
hg18654
hg17654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698867
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523158
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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