A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518049



Internal ID15445342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58230488..58235789hg38UCSC Ensembl
Innerchr18:55897720..55903021hg19UCSC Ensembl
Innerchr18:54048700..54054001hg18UCSC Ensembl
Innerchr18:54048700..54054001hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg385302
hg195302
hg185302
hg175302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695460
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518049
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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