A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12942



Internal ID15485899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15758842..15766710hg38UCSC Ensembl
Outerchr4:15757593..15816583hg38UCSC Ensembl
Innerchr4:15760465..15768333hg19UCSC Ensembl
Outerchr4:15759216..15818206hg19UCSC Ensembl
Innerchr4:15369563..15377431hg18UCSC Ensembl
Outerchr4:15368314..15427304hg18UCSC Ensembl
Innerchr4:15436734..15444602hg17UCSC Ensembl
Outerchr4:15435485..15494475hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3858991
hg1958991
hg1858991
hg1758991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10460
Supporting Variants
SamplesNA18502
Known GenesCD38
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)nssv12942
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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