A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20728



Internal ID15842365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4145411..4346058hg38UCSC Ensembl
Outerchr11:4138723..4346305hg38UCSC Ensembl
Innerchr11:4166641..4367288hg19UCSC Ensembl
Outerchr11:4159953..4367535hg19UCSC Ensembl
Innerchr11:4123217..4323864hg18UCSC Ensembl
Outerchr11:4116529..4324111hg18UCSC Ensembl
Innerchr11:4123217..4323864hg17UCSC Ensembl
Outerchr11:4116529..4324111hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38207583
hg19207583
hg18207583
hg17207583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8777
Supporting Variants
SamplesNA19144
Known GenesLOC100506082, RRM1
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)nssv20728
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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