A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13377



Internal ID15841573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69393004..69410583hg38UCSC Ensembl
Outerchr4:69391553..69411661hg38UCSC Ensembl
Innerchr4:70258722..70276301hg19UCSC Ensembl
Outerchr4:70257271..70277379hg19UCSC Ensembl
Innerchr4:70293311..70310890hg18UCSC Ensembl
Outerchr4:70291860..70311968hg18UCSC Ensembl
Innerchr4:70439482..70457061hg17UCSC Ensembl
Outerchr4:70438031..70458139hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3820109
hg1920109
hg1820109
hg1720109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA19132
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)nssv13377
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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