A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20505



Internal ID15834792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114602965..114646136hg38UCSC Ensembl
Outerchr11:114600979..114646692hg38UCSC Ensembl
Innerchr11:114473687..114516858hg19UCSC Ensembl
Outerchr11:114471701..114517414hg19UCSC Ensembl
Innerchr11:113978897..114022068hg18UCSC Ensembl
Outerchr11:113976911..114022624hg18UCSC Ensembl
Innerchr11:113978897..114022068hg17UCSC Ensembl
Outerchr11:113976911..114022624hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3845714
hg1945714
hg1845714
hg1745714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8873
Supporting Variants
SamplesNA18537
Known Genes
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)nssv20505
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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