A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598550



Internal ID16385959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70922561..70942901hg38UCSC Ensembl
Innerchr5:70218388..70238728hg19UCSC Ensembl
Innerchr5:70254144..70274484hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3820341
hg1920341
hg1820341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9858n54
Supporting Variantsnssv1034932
Samples
Known GenesSMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598550
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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