A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26628



Internal ID15844045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113435325..113445333hg38UCSC Ensembl
Outerchr13:113434198..113446711hg38UCSC Ensembl
Innerchr13:114089640..114099648hg19UCSC Ensembl
Outerchr13:114088513..114101026hg19UCSC Ensembl
Innerchr13:113137641..113147649hg18UCSC Ensembl
Outerchr13:113136514..113149027hg18UCSC Ensembl
Innerchr13:113137641..113147649hg17UCSC Ensembl
Outerchr13:113136514..113149027hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812514
hg1912514
hg1812514
hg1712514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9116
Supporting Variants
SamplesNA19221
Known GenesADPRHL1
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)nssv26628
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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