A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13221



Internal ID15838577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91014067..91014452hg38UCSC Ensembl
Outerchr4:90921625..91014841hg38UCSC Ensembl
Innerchr4:91935218..91935603hg19UCSC Ensembl
Outerchr4:91842776..91935992hg19UCSC Ensembl
Innerchr4:92154241..92154626hg18UCSC Ensembl
Outerchr4:92061799..92155015hg18UCSC Ensembl
Innerchr4:92292396..92292781hg17UCSC Ensembl
Outerchr4:92199954..92293170hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3893217
hg1993217
hg1893217
hg1793217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10533
Supporting Variants
SamplesNA18860
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)nssv13221
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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