A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13333



Internal ID15833203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56671179..56672154hg38UCSC Ensembl
Outerchr4:56668698..56672991hg38UCSC Ensembl
Innerchr4:57537345..57538320hg19UCSC Ensembl
Outerchr4:57534864..57539157hg19UCSC Ensembl
Innerchr4:57232102..57233077hg18UCSC Ensembl
Outerchr4:57229621..57233914hg18UCSC Ensembl
Innerchr4:57378273..57379248hg17UCSC Ensembl
Outerchr4:57375792..57380085hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384294
hg194294
hg184294
hg174294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10497
Supporting Variants
SamplesNA18504
Known GenesHOPX
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)nssv13333
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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