A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598514



Internal ID16385923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70076864..70077667hg38UCSC Ensembl
Innerchr5:69372691..69373494hg19UCSC Ensembl
Innerchr5:69408447..69409250hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034894
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)nsv598514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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