A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22691



Internal ID15832779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61199122..61252762hg38UCSC Ensembl
Outerchr11:61198387..61254097hg38UCSC Ensembl
Innerchr11:60966594..61020234hg19UCSC Ensembl
Outerchr11:60965859..61021569hg19UCSC Ensembl
Innerchr11:60723170..60776810hg18UCSC Ensembl
Outerchr11:60722435..60778145hg18UCSC Ensembl
Innerchr11:60723170..60776810hg17UCSC Ensembl
Outerchr11:60722435..60778145hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3855711
hg1955711
hg1855711
hg1755711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8833
Supporting Variants
SamplesNA18502
Known GenesPGA3, PGA4, PGA5
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)nssv22691
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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