A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13087



Internal ID15483292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89010766..89012754hg38UCSC Ensembl
Outerchr1:89010060..89013363hg38UCSC Ensembl
Innerchr1:89476449..89478437hg19UCSC Ensembl
Outerchr1:89475743..89479046hg19UCSC Ensembl
Innerchr1:89249037..89251025hg18UCSC Ensembl
Outerchr1:89248331..89251634hg18UCSC Ensembl
Innerchr1:89188470..89190458hg17UCSC Ensembl
Outerchr1:89187764..89191067hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383304
hg193304
hg183304
hg173304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10361
Supporting Variants
SamplesNA11830
Known GenesGBP3
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)nssv13087
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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