A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13262



Internal ID15480932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70248922..70543453hg38UCSC Ensembl
Outerchr5:70247970..70543581hg38UCSC Ensembl
Innerchr5:69544749..69839280hg19UCSC Ensembl
Outerchr5:69543797..69839408hg19UCSC Ensembl
Innerchr5:69580505..69875036hg18UCSC Ensembl
Outerchr5:69579553..69875164hg18UCSC Ensembl
Innerchr5:69580505..69875036hg17UCSC Ensembl
Outerchr5:69579553..69875164hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38295612
hg19295612
hg18295612
hg17295612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07029
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SMA4, 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)nssv13262
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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