A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8691



Internal ID15846603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196741634..196958768hg38UCSC Ensembl
Outerchr1:196710764..196927898hg19UCSC Ensembl
Outerchr1:194977387..195194521hg18UCSC Ensembl
Outerchr1:193442421..193659555hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38217135
hg19217135
hg18217135
hg17217135
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20739, nssv20755, nssv28018, nssv24001, nssv20090, nssv21400, nssv24898, nssv22765, nssv28103, nssv26717, nssv24583, nssv22745, nssv23083, nssv28153, nssv21760, nssv23059, nssv26558, nssv24295, nssv27529, nssv23369, nssv27036, nssv21395, nssv26732, nssv27639, nssv24302, nssv19438, nssv23393, nssv26721, nssv23075, nssv21399, nssv26385, nssv22095, nssv21069, nssv22422, nssv25173, nssv26562, nssv22757, nssv21066, nssv27417, nssv26872, nssv26851, nssv23697, nssv24893, nssv22750, nssv21761, nssv19768, nssv25453, nssv24592, nssv23998, nssv19760, nssv21396
SamplesNA18502, NA11830, NA18980, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA18975, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4
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)nsv8691
Frequency
Sample Size31
Observed Gain15
Observed Loss10
Observed Complex0
Frequencyn/a


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