A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22471



Internal ID15844918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88894637..88930946hg38UCSC Ensembl
Outerchr11:88893608..88931319hg38UCSC Ensembl
Innerchr11:88627805..88664114hg19UCSC Ensembl
Outerchr11:88626776..88664487hg19UCSC Ensembl
Innerchr11:88267453..88303762hg18UCSC Ensembl
Outerchr11:88266424..88304135hg18UCSC Ensembl
Innerchr11:88267453..88303762hg17UCSC Ensembl
Outerchr11:88266424..88304135hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3837712
hg1937712
hg1837712
hg1737712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8853
Supporting Variants
SamplesNA19240
Known GenesGRM5
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)nssv22471
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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