A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12535



Internal ID15494036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143864561..143873143hg38UCSC Ensembl
Outerchr4:143863871..143873574hg38UCSC Ensembl
Innerchr4:144785714..144794296hg19UCSC Ensembl
Outerchr4:144785024..144794727hg19UCSC Ensembl
Innerchr4:145005164..145013746hg18UCSC Ensembl
Outerchr4:145004474..145014177hg18UCSC Ensembl
Innerchr4:145143319..145151901hg17UCSC Ensembl
Outerchr4:145142629..145152332hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg389704
hg199704
hg189704
hg179704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA18980
Known GenesGYPE
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)nssv12535
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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