A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8288



Internal ID15499514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12087314..12669176hg38UCSC Ensembl
Outerchr8:11944823..12526685hg19UCSC Ensembl
Outerchr8:11982232..12571056hg18UCSC Ensembl
Outerchr8:11982232..12571056hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38581863
hg19581863
hg18588825
hg17588825
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436, nssv16834, nssv17608, nssv19257, nssv20910, nssv16924, nssv16670, nssv17227, nssv15970, nssv15461, nssv19673, nssv16254, nssv17328, nssv16855, nssv16000, nssv17819, nssv17236, nssv19583, nssv15979, nssv19643, nssv17799, nssv17206, nssv15401, nssv18882, nssv19703, nssv17448, nssv18301, nssv19793, nssv17466, nssv20114, nssv17829, nssv16885, nssv17176, nssv20144, nssv16344, nssv18361, nssv16009, nssv20790, nssv17388, nssv17283, nssv19883, nssv16894, nssv17197, nssv17729, nssv15919, nssv16192, nssv16284, nssv18271, nssv18391, nssv17313, nssv16915, nssv17849, nssv15949, nssv17978, nssv16314, nssv16115, nssv16030, nssv17257, nssv20850, nssv19227, nssv16700, nssv16162, nssv17145, nssv19243, nssv20880, nssv16376, nssv17115, nssv16222, nssv17789, nssv18421, nssv17548, nssv17056, nssv19823, nssv19853, nssv16145, nssv18241, nssv18822, nssv17358, nssv19317, nssv19371, nssv19733, nssv19273, nssv16346, nssv20940, nssv16175, nssv18852, nssv16864, nssv16374, nssv18008, nssv17298, nssv20820, nssv17146, nssv17578, nssv16224, nssv17167, nssv17253, nssv16772, nssv19197, nssv16640, nssv20174, nssv16404, nssv18331, nssv16607, nssv17638, nssv17879, nssv19213, nssv17116, nssv16730, nssv18038, nssv19303, nssv16802, nssv19333, nssv17948, nssv18481, nssv19287, nssv19613, nssv17268
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 GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)nsv8288
Frequency
Sample Size31
Observed Gain29
Observed Loss15
Observed Complex0
Frequencyn/a


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