A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13456



Internal ID15488782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70496712..70500989hg38UCSC Ensembl
Outerchr5:70496663..70501664hg38UCSC Ensembl
Innerchr5:69792539..69796816hg19UCSC Ensembl
Outerchr5:69792490..69797491hg19UCSC Ensembl
Innerchr5:69828295..69832572hg18UCSC Ensembl
Outerchr5:69828246..69833247hg18UCSC Ensembl
Innerchr5:69828295..69832572hg17UCSC Ensembl
Outerchr5:69828246..69833247hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385002
hg195002
hg185002
hg175002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
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)nssv13456
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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