A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11822



Internal ID15480851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68625575..68646482hg38UCSC Ensembl
Outerchr4:68625085..68646972hg38UCSC Ensembl
Innerchr4:69491293..69512200hg19UCSC Ensembl
Outerchr4:69490803..69512690hg19UCSC Ensembl
Innerchr4:69173888..69194795hg18UCSC Ensembl
Outerchr4:69173398..69195285hg18UCSC Ensembl
Innerchr4:69320059..69340966hg17UCSC Ensembl
Outerchr4:69319569..69341456hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3821888
hg1921888
hg1821888
hg1721888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA07029
Known GenesUGT2B15
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)nssv11822
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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