A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9651



Internal ID15500877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:60001..177093hg38UCSC Ensembl
Outerchr19:60001..177093hg19UCSC Ensembl
Outerchr19:11001..128093hg18UCSC Ensembl
Outerchr19:6284..128093hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38117093
hg19117093
hg18117093
hg17121810
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24548, nssv24064, nssv28420, nssv22039, nssv24395, nssv25558, nssv26658, nssv25917, nssv24012, nssv24797, nssv25143, nssv27225, nssv27669, nssv26403, nssv27372, nssv23790, nssv24755, nssv27677, nssv27433, nssv26767, nssv21490, nssv23971, nssv26645, nssv27338, nssv25118
SamplesNA18502, NA07029, NA18504, NA12155, NA12802, NA18860, NA07048, NA10839, NA18975, NA19007, NA10863, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesFAM138A, FAM138F, OR4F17, WASH5P
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)nsv9651
Frequency
Sample Size31
Observed Gain20
Observed Loss3
Observed Complex0
Frequencyn/a


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