A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22411



Internal ID15498194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74821916..74822375hg38UCSC Ensembl
Outerchr11:74821292..74823028hg38UCSC Ensembl
Innerchr11:74532961..74533420hg19UCSC Ensembl
Outerchr11:74532337..74534073hg19UCSC Ensembl
Innerchr11:74210609..74211068hg18UCSC Ensembl
Outerchr11:74209985..74211721hg18UCSC Ensembl
Innerchr11:74210609..74211068hg17UCSC Ensembl
Outerchr11:74209985..74211721hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
hg171737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8839
Supporting Variants
SamplesNA19240
Known GenesRNF169
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)nssv22411
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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