A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8268



Internal ID15499494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:3828180..6093948hg38UCSC Ensembl
Outerchr8:3685702..5951470hg19UCSC Ensembl
Outerchr8:3673110..5938878hg18UCSC Ensembl
Outerchr8:3673110..5938878hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382265769
hg192265769
hg182265769
hg172265769
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16816, nssv18642, nssv17058, nssv19011, nssv20340, nssv17256, nssv17226, nssv15952, nssv15529, nssv15589, nssv17013, nssv19003, nssv17731, nssv20310, nssv17158, nssv15499, nssv18927, nssv16444, nssv18837, nssv15845, nssv16953, nssv16400, nssv16074, nssv16534, nssv18867, nssv16504, nssv16815, nssv20280, nssv15922, nssv16044, nssv16474, nssv17399, nssv16490, nssv19223, nssv16337, nssv17708, nssv19041, nssv17821, nssv17701, nssv15790, nssv18612, nssv16615, nssv17188, nssv15730, nssv15221, nssv19814, nssv17768, nssv16875, nssv16442, nssv16777, nssv16807, nssv17278, nssv18913, nssv19161, nssv16460, nssv19784, nssv16256, nssv16845, nssv17559, nssv16382, nssv15700, nssv17459, nssv16555, nssv18883, nssv15905, nssv16983, nssv16876, nssv16367, nssv16352, nssv17791, nssv17678, nssv16585, nssv16472, nssv18943, nssv15559, nssv15670, nssv17648, nssv16502, nssv17499, nssv17618, nssv19131, nssv15191, nssv17248, nssv16846, nssv18897, nssv17218, nssv19724, nssv16786, nssv17589, nssv15161, nssv16134, nssv15875, nssv19071, nssv16525, nssv18973, nssv16717, nssv17529, nssv16520
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 GenesCSMD1
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)nsv8268
Frequency
Sample Size31
Observed Gain30
Observed Loss18
Observed Complex0
Frequencyn/a


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