A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26788



Internal ID15497519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102908085..102931574hg38UCSC Ensembl
Outerchr14:102907396..102932404hg38UCSC Ensembl
Innerchr14:103374422..103397911hg19UCSC Ensembl
Outerchr14:103373733..103398741hg19UCSC Ensembl
Innerchr14:102444175..102467664hg18UCSC Ensembl
Outerchr14:102443486..102468494hg18UCSC Ensembl
Innerchr14:102444175..102467664hg17UCSC Ensembl
Outerchr14:102443486..102468494hg17UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3825009
hg1925009
hg1825009
hg1725009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9167
Supporting Variants
SamplesNA19221
Known GenesAMN, CDC42BPB, TRAF3
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)nssv26788
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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