A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10186



Internal ID15845149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:131547440..131761950hg38UCSC Ensembl
Outerchr2:132305013..132519523hg19UCSC Ensembl
Outerchr2:132021483..132235993hg18UCSC Ensembl
Outerchr2:132138745..132353255hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38214511
hg19214511
hg18214511
hg17214511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12083, nssv29109, nssv28665, nssv28255, nssv11618, nssv28692, nssv28286, nssv28258, nssv28713, nssv28445, nssv28776, nssv29200, nssv27917, nssv29186, nssv29169, nssv29170, nssv28158, nssv11511, nssv12053, nssv12143, nssv28806, nssv29139, nssv12173, nssv11481, nssv11648, nssv27278, nssv29216, nssv28625, nssv28208, nssv28836, nssv29140, nssv28485, nssv29244
SamplesNA18502, NA18980, NA18504, NA12155, NA18860, NA07048, NA18975, NA19007, NA10847, NA10863, NA12872, NA19132, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesC2orf27A, LINC01087, POTEKP, RNU6-81P
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)nsv10186
Frequency
Sample Size31
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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