A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12504



Internal ID15840352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124026463..124027475hg38UCSC Ensembl
Outerchr4:124025827..124028029hg38UCSC Ensembl
Innerchr4:124947618..124948630hg19UCSC Ensembl
Outerchr4:124946982..124949184hg19UCSC Ensembl
Innerchr4:125167068..125168080hg18UCSC Ensembl
Outerchr4:125166432..125168634hg18UCSC Ensembl
Innerchr4:125305223..125306235hg17UCSC Ensembl
Outerchr4:125304587..125306789hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382203
hg192203
hg182203
hg172203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10562
Supporting Variants
SamplesNA18975
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)nssv12504
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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