A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22720



Internal ID15486086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61282938..61295545hg38UCSC Ensembl
Outerchr11:61282109..61296169hg38UCSC Ensembl
Innerchr11:61050410..61063017hg19UCSC Ensembl
Outerchr11:61049581..61063641hg19UCSC Ensembl
Innerchr11:60806986..60819593hg18UCSC Ensembl
Outerchr11:60806157..60820217hg18UCSC Ensembl
Innerchr11:60806986..60819593hg17UCSC Ensembl
Outerchr11:60806157..60820217hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3814061
hg1914061
hg1814061
hg1714061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8834
Supporting Variants
SamplesNA18502
Known GenesVWCE
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)nssv22720
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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