A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13913



Internal ID15839267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49556715..49628685hg38UCSC Ensembl
Outerchr4:49556704..49628773hg38UCSC Ensembl
Innerchr4:49558732..49630702hg19UCSC Ensembl
Outerchr4:49558721..49630790hg19UCSC Ensembl
Innerchr4:49253489..49325459hg18UCSC Ensembl
Outerchr4:49253478..49325547hg18UCSC Ensembl
Innerchr4:49399660..49471630hg17UCSC Ensembl
Outerchr4:49399649..49471718hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3872070
hg1972070
hg1872070
hg1772070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10491
Supporting Variants
SamplesNA18972
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)nssv13913
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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