A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10272



Internal ID15845235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1889015..1891873hg38UCSC Ensembl
Outerchr1:1820454..1823312hg19UCSC Ensembl
Outerchr1:1810314..1813172hg18UCSC Ensembl
Outerchr1:1852616..1855474hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382859
hg192859
hg182859
hg172859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29276, nssv28535, nssv26884, nssv21440, nssv21434, nssv28034, nssv24617, nssv28028, nssv28044, nssv18097, nssv24607, nssv21437, nssv21422, nssv28930, nssv24619, nssv21425, nssv21432
SamplesNA18502, NA11830, NA07029, NA18504, NA18563, NA07048, NA19007, NA10847, NA10863, NA12872, NA18572, NA18853, NA18517, NA19144, NA12740, NA19173, NA18552
Known GenesGNB1
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)nsv10272
Frequency
Sample Size31
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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