A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8025



Internal ID15845937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145196879..145221573hg38UCSC Ensembl
Outerchr1:144502031..144527040hg19UCSC Ensembl
Outerchr1:143213388..143238397hg18UCSC Ensembl
Outerchr1:142079386..142104395hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824695
hg1925010
hg1825010
hg1725010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737, nssv16085, nssv19757, nssv17422, nssv18439, nssv20418, nssv25963, nssv18063, nssv23981, nssv19106
SamplesNA11830, NA18563, NA18942, NA07048, NA10839, NA19007, NA10847, NA18572, NA18564, NA18972
Known GenesLOC100288142, LOC728875
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)nsv8025
Frequency
Sample Size31
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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