A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20507



Internal ID15836191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61197908..61248500hg38UCSC Ensembl
Outerchr11:61196064..61248858hg38UCSC Ensembl
Innerchr11:60965380..61015972hg19UCSC Ensembl
Outerchr11:60963536..61016330hg19UCSC Ensembl
Innerchr11:60721956..60772548hg18UCSC Ensembl
Outerchr11:60720112..60772906hg18UCSC Ensembl
Innerchr11:60721956..60772548hg17UCSC Ensembl
Outerchr11:60720112..60772906hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3852795
hg1952795
hg1852795
hg1752795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8833
Supporting Variants
SamplesNA18563
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)nssv20507
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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