A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598556



Internal ID16385965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70930035..70954147hg38UCSC Ensembl
Innerchr5:70225862..70249974hg19UCSC Ensembl
Innerchr5:70261618..70285730hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3824113
hg1924113
hg1824113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034939
Samples
Known GenesSMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598556
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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