A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13297



Internal ID15483319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70577936..70727745hg38UCSC Ensembl
Outerchr5:70577503..70728178hg38UCSC Ensembl
Innerchr5:69873763..70023572hg19UCSC Ensembl
Outerchr5:69873330..70024005hg19UCSC Ensembl
Innerchr5:69909519..70059328hg18UCSC Ensembl
Outerchr5:69909086..70059761hg18UCSC Ensembl
Innerchr5:69909519..70059328hg17UCSC Ensembl
Outerchr5:69909086..70059761hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38150676
hg19150676
hg18150676
hg17150676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA11830
Known GenesSMA4, SMA5
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv13297
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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