A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25336



Internal ID15496837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67989437..68051669hg38UCSC Ensembl
Outerchr11:67985408..68052332hg38UCSC Ensembl
Innerchr11:67756908..67819136hg19UCSC Ensembl
Outerchr11:67752879..67819799hg19UCSC Ensembl
Innerchr11:67513484..67575712hg18UCSC Ensembl
Outerchr11:67509455..67576375hg18UCSC Ensembl
Innerchr11:67513484..67575712hg17UCSC Ensembl
Outerchr11:67509455..67576375hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3866925
hg1966921
hg1866921
hg1766921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8836
Supporting Variants
SamplesNA19221
Known GenesALDH3B1, MIR4691, MIR6753, MIR7113, NDUFS8, TCIRG1, UNC93B1
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)nssv25336
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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