A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23191



Internal ID15839576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61196064..61241917hg38UCSC Ensembl
Outerchr11:61195201..61242462hg38UCSC Ensembl
Innerchr11:60963536..61009389hg19UCSC Ensembl
Outerchr11:60962673..61009934hg19UCSC Ensembl
Innerchr11:60720112..60765965hg18UCSC Ensembl
Outerchr11:60719249..60766510hg18UCSC Ensembl
Innerchr11:60720112..60765965hg17UCSC Ensembl
Outerchr11:60719249..60766510hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3847262
hg1947262
hg1847262
hg1747262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8833
Supporting Variants
SamplesNA18972
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)nssv23191
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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