A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10180



Internal ID15498457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:131158153..131366796hg38UCSC Ensembl
Outerchr2:131915726..132124369hg19UCSC Ensembl
Outerchr2:131632196..131840839hg18UCSC Ensembl
Outerchr2:131749458..131958101hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38208644
hg19208644
hg18208644
hg17208644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27940, nssv28633, nssv29214, nssv11498, nssv28673, nssv28899, nssv28652, nssv11558, nssv29020, nssv28746, nssv29148, nssv28959, nssv27845, nssv11903, nssv29118, nssv28508, nssv29238, nssv29050, nssv11468, nssv28618, nssv28989, nssv28658, nssv29156, nssv28023, nssv29058, nssv28869, nssv29208, nssv29184, nssv29094, nssv27822, nssv28858, nssv28015, nssv29178, nssv29080, nssv29154, nssv11933, nssv11588, nssv11528, nssv28888, nssv28108, nssv29049, nssv28337, nssv11993, nssv28990, nssv28585, nssv11873, nssv29019, nssv28578, nssv29066, nssv28205, nssv28698, nssv28236, nssv29124, nssv28186, nssv28136, nssv11963, nssv29096, nssv29088, nssv29126, nssv28356
SamplesNA18502, NA11830, NA18980, NA18504, NA12155, NA18563, NA18860, NA07048, NA18975, NA19007, NA10847, NA10863, NA18853, NA19132, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesLOC440910, POTEE, WTH3DI
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)nsv10180
Frequency
Sample Size31
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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