A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13428



Internal ID15489705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13404887..13409256hg38UCSC Ensembl
Outerchr1:13403854..13409697hg38UCSC Ensembl
Innerchr1:13510513..13514872hg19UCSC Ensembl
Outerchr1:13509480..13515314hg19UCSC Ensembl
Innerchr1:13383100..13387459hg18UCSC Ensembl
Outerchr1:13382067..13387901hg18UCSC Ensembl
Innerchr1:13255819..13260178hg17UCSC Ensembl
Outerchr1:13254786..13260620hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385844
hg195835
hg185835
hg175835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known Genes
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)nssv13428
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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