A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8225



Internal ID15499451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148440834..148578318hg38UCSC Ensembl
Outerchr1:147912944..148016747hg19UCSC Ensembl
Outerchr1:146379568..146483371hg18UCSC Ensembl
Outerchr1:145027856..145131659hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38137485
hg19103804
hg18103804
hg17103804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19759, nssv26567, nssv19766, nssv17079, nssv19429, nssv22098, nssv21768, nssv18757, nssv18071, nssv23070, nssv24880, nssv21758, nssv17075, nssv22428, nssv20747, nssv17405, nssv22088, nssv20089, nssv18442, nssv20417, nssv19090, nssv19083, nssv18426, nssv20083, nssv20402, nssv21077, nssv17755, nssv19095
SamplesNA12802, NA10839, NA10847, NA18972, NA18517, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA12872, NA18504, NA18564, NA18942, NA11830, NA19007, NA18980
Known GenesLINC01138, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)nsv8225
Frequency
Sample Size31
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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