A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598513



Internal ID16385922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70076590..70080961hg38UCSC Ensembl
Innerchr5:69372417..69376788hg19UCSC Ensembl
Innerchr5:69408173..69412544hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384372
hg194372
hg184372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034893
Samples
Known GenesSMA4, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598513
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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