A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22935



Internal ID15839567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18928410..18941816hg38UCSC Ensembl
Outerchr11:18919677..18950334hg38UCSC Ensembl
Innerchr11:18949957..18963363hg19UCSC Ensembl
Outerchr11:18941224..18971881hg19UCSC Ensembl
Innerchr11:18906533..18919939hg18UCSC Ensembl
Outerchr11:18897800..18928457hg18UCSC Ensembl
Innerchr11:18906533..18919939hg17UCSC Ensembl
Outerchr11:18897800..18928457hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3830658
hg1930658
hg1830658
hg1730658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8795
Supporting Variants
SamplesNA18972
Known GenesMRGPRX1
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)nssv22935
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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