A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28945



Internal ID15496134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13274044..13274061hg38UCSC Ensembl
Outerchr1:13273693..13275182hg38UCSC Ensembl
Innerchr1:13379654..13379671hg19UCSC Ensembl
Outerchr1:13379303..13380792hg19UCSC Ensembl
Innerchr1:13252241..13252258hg18UCSC Ensembl
Outerchr1:13251890..13253379hg18UCSC Ensembl
Innerchr1:13124960..13124977hg17UCSC Ensembl
Outerchr1:13124609..13126098hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
hg171490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19144
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)nssv28945
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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