A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13467



Internal ID15841549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88287978..88288508hg38UCSC Ensembl
Outerchr4:88287027..88289014hg38UCSC Ensembl
Innerchr4:89209130..89209660hg19UCSC Ensembl
Outerchr4:89208179..89210166hg19UCSC Ensembl
Innerchr4:89428154..89428684hg18UCSC Ensembl
Outerchr4:89427203..89429190hg18UCSC Ensembl
Innerchr4:89566309..89566839hg17UCSC Ensembl
Outerchr4:89565358..89567345hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381988
hg191988
hg181988
hg171988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10532
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)nssv13467
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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