A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12819



Internal ID15831009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:151887537..151888521hg38UCSC Ensembl
Outerchr4:151886513..151888702hg38UCSC Ensembl
Innerchr4:152808689..152809673hg19UCSC Ensembl
Outerchr4:152807665..152809854hg19UCSC Ensembl
Innerchr4:153028139..153029123hg18UCSC Ensembl
Outerchr4:153027115..153029304hg18UCSC Ensembl
Innerchr4:153166294..153167278hg17UCSC Ensembl
Outerchr4:153165270..153167459hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382190
hg192190
hg182190
hg172190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10588
Supporting Variants
SamplesNA12740
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)nssv12819
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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