A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10533



Internal ID15845496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:90921625..91014841hg38UCSC Ensembl
Outerchr4:91842776..91935992hg19UCSC Ensembl
Outerchr4:92061799..92155015hg18UCSC Ensembl
Outerchr4:92199954..92293170hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3893217
hg1993217
hg1893217
hg1793217
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310, nssv11916, nssv13362, nssv13221
SamplesNA18502, NA18860, NA10863, NA19221
Known GenesCCSER1
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)nsv10533
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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