A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10531



Internal ID15498808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88099214..88163241hg38UCSC Ensembl
Outerchr4:89020366..89084393hg19UCSC Ensembl
Outerchr4:89239390..89303417hg18UCSC Ensembl
Outerchr4:89377545..89441572hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3864028
hg1964028
hg1864028
hg1764028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11886
SamplesNA10863
Known GenesABCG2
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)nsv10531
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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