A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8768



Internal ID15499994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12786012..13382061hg38UCSC Ensembl
Outerchr1:12846155..13517588hg19UCSC Ensembl
Outerchr1:12768742..13390175hg18UCSC Ensembl
Outerchr1:12780421..13262894hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38596050
hg19671434
hg18621434
hg17482474
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26901, nssv14099, nssv12765, nssv28554, nssv11776, nssv28928, nssv29259, nssv21451, nssv28551, nssv11764, nssv26883, nssv28056, nssv28540, nssv14753, nssv28948, nssv14429, nssv11766, nssv12103, nssv11770, nssv28931, nssv13414, nssv28549, nssv26891, nssv12120, nssv13084, nssv13429, nssv11781, nssv28033, nssv28541, nssv12109, nssv12422, nssv28560, nssv29262, nssv12779, nssv15113, nssv26890, nssv12763, nssv13093, nssv29263, nssv29258, nssv29265, nssv13109, nssv28944, nssv11769, nssv28555, nssv28544, nssv11777, nssv28546, nssv28557, nssv12450, nssv28550, nssv28923, nssv29271, nssv28919, nssv14093, nssv12108, nssv29277, nssv21427, nssv12773, nssv29274, nssv11783, nssv12441, nssv26878, nssv28547, nssv24622, nssv11772, nssv12099, nssv11762, nssv12424, nssv28927, nssv12105, nssv12752, nssv28039, nssv26895, nssv28933, nssv28036, nssv13103, nssv13433, nssv28042, nssv28049, nssv28939, nssv12768, nssv11790, nssv12754, nssv12092, nssv26898, nssv12121, nssv29253, nssv12426, nssv14083, nssv26880, nssv12437, nssv12769, nssv12107, nssv28545, nssv28556, nssv28035, nssv24598, nssv26897, nssv29275, nssv11763, nssv12439, nssv28047, nssv11779, nssv12443, nssv28539, nssv28053, nssv28559, nssv28935, nssv29269, nssv12438, nssv24599, nssv26904, nssv12767, nssv12111, nssv28937, nssv28938, nssv28040, nssv28050, nssv29257, nssv24616, nssv29266, nssv29268, nssv13769, nssv28929, nssv28941, nssv11775, nssv12096, nssv28032, nssv13423, nssv29250, nssv12113, nssv28920, nssv11780, nssv12094, nssv13744, nssv12433, nssv11774, nssv11782, nssv28936, nssv14074, nssv29267, nssv14423, nssv28945, nssv12101, nssv29278, nssv11778, nssv11771, nssv11791, nssv13753, nssv28932, nssv29264, nssv12435, nssv12112, nssv26881, nssv13428, nssv13098, nssv26899, nssv12429, nssv28051, nssv13763, nssv28043, nssv28543, nssv28947, nssv29249, nssv13099, nssv28943, nssv13439, nssv29261, nssv12780, nssv28531, nssv28553, nssv28934, nssv29256, nssv12093, nssv28041
SamplesNA12802, NA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA19132, NA11830, NA19240, NA18853, NA19007, NA18980
Known GenesHNRNPCL1, HNRNPCP5, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
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)nsv8768
Frequency
Sample Size31
Observed Gain30
Observed Loss19
Observed Complex0
Frequencyn/a


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