A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19725



Internal ID15488143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:979976..981401hg38UCSC Ensembl
Outerchr11:979333..983986hg38UCSC Ensembl
Innerchr11:979976..981401hg19UCSC Ensembl
Outerchr11:979333..983986hg19UCSC Ensembl
Innerchr11:969976..971401hg18UCSC Ensembl
Outerchr11:969333..973986hg18UCSC Ensembl
Innerchr11:969976..971401hg17UCSC Ensembl
Outerchr11:969333..973986hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384654
hg194654
hg184654
hg174654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8761
Supporting Variants
SamplesNA18537
Known GenesAP2A2
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)nssv19725
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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