A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9117



Internal ID15847029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:18581357..19957242hg38UCSC Ensembl
Outerchr14:19357834..20425401hg19UCSC Ensembl
Outerchr14:18427834..19495241hg18UCSC Ensembl
Outerchr14:18427834..19495241hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381375886
hg191067568
hg181067408
hg171067408
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24544, nssv22148, nssv21334, nssv23816, nssv21228, nssv26641, nssv21364, nssv22648, nssv23789, nssv20973, nssv20694, nssv23870, nssv21968, nssv24948, nssv23762, nssv20936, nssv24532, nssv24440, nssv23897, nssv21737, nssv24734, nssv24492, nssv24480, nssv19642, nssv21885, nssv20986, nssv18910, nssv22118, nssv22147, nssv21938, nssv20162, nssv21797, nssv23575, nssv24506, nssv20796, nssv19361, nssv19331, nssv24466, nssv21258, nssv20724, nssv24998, nssv21899, nssv20664, nssv21565, nssv22057, nssv19301, nssv21707, nssv21170, nssv18940, nssv22028, nssv23843, nssv19391, nssv21795, nssv21288, nssv24494, nssv21839, nssv20766, nssv19241, nssv24558, nssv24973, nssv20192, nssv19672, nssv21168, nssv24468, nssv21869, nssv26654, nssv24630, nssv24442, nssv24632, nssv22618, nssv18880, nssv24454, nssv24546, nssv21825, nssv19511, nssv21998, nssv21677, nssv19385, nssv21535, nssv22058, nssv19451, nssv24708, nssv20966, nssv21016, nssv25048, nssv24682, nssv22678, nssv24518, nssv21200, nssv20996, nssv21855, nssv21827, nssv21198, nssv19702, nssv24520, nssv24692, nssv19399, nssv23603, nssv25023, nssv21318, nssv21939
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
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)nsv9117
Frequency
Sample Size31
Observed Gain9
Observed Loss30
Observed Complex0
Frequencyn/a


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