A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15720



Internal ID15497414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70512584..70515994hg38UCSC Ensembl
Outerchr5:70512443..70516241hg38UCSC Ensembl
Innerchr5:69808411..69811821hg19UCSC Ensembl
Outerchr5:69808270..69812068hg19UCSC Ensembl
Innerchr5:69844167..69847577hg18UCSC Ensembl
Outerchr5:69844026..69847824hg18UCSC Ensembl
Innerchr5:69844167..69847577hg17UCSC Ensembl
Outerchr5:69844026..69847824hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
hg173799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19221
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)nssv15720
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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