A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11672



Internal ID15827186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49557570..49579180hg38UCSC Ensembl
Outerchr4:49557441..49579293hg38UCSC Ensembl
Innerchr4:49559587..49581197hg19UCSC Ensembl
Outerchr4:49559458..49581310hg19UCSC Ensembl
Innerchr4:49254344..49275954hg18UCSC Ensembl
Outerchr4:49254215..49276067hg18UCSC Ensembl
Innerchr4:49400515..49422125hg17UCSC Ensembl
Outerchr4:49400386..49422238hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3821853
hg1921853
hg1821853
hg1721853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10491
Supporting Variants
SamplesNA07029
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)nssv11672
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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