A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25123



Internal ID15491948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20952923..20957618hg38UCSC Ensembl
Outerchr14:20952158..20958490hg38UCSC Ensembl
Innerchr14:21421082..21425777hg19UCSC Ensembl
Outerchr14:21420317..21426649hg19UCSC Ensembl
Innerchr14:20490922..20495617hg18UCSC Ensembl
Outerchr14:20490157..20496489hg18UCSC Ensembl
Innerchr14:20490922..20495617hg17UCSC Ensembl
Outerchr14:20490157..20496489hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386333
hg196333
hg186333
hg176333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9121
Supporting Variants
SamplesNA18860
Known GenesRNASE2
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)nssv25123
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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