A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8899



Internal ID15846811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8157482..8228244hg38UCSC Ensembl
Outerchr12:8310078..8380840hg19UCSC Ensembl
Outerchr12:8201345..8272107hg18UCSC Ensembl
Outerchr12:8201345..8272107hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3870763
hg1970763
hg1870763
hg1770763
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25605, nssv19794, nssv23236, nssv20867, nssv21308, nssv20819, nssv19382, nssv23208, nssv22780, nssv22739, nssv18815, nssv18829, nssv24079, nssv21628, nssv20326, nssv23505, nssv23781, nssv18922, nssv23464, nssv20270, nssv20568, nssv20538, nssv20464, nssv18785, nssv21009
SamplesNA18502, NA07029, NA18504, NA12155, NA18563, NA18860, NA18942, NA10839, NA18975, NA10847, NA18572, NA19221, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesFAM66C, FAM90A1, ZNF705A
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)nsv8899
Frequency
Sample Size31
Observed Gain14
Observed Loss8
Observed Complex0
Frequencyn/a


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