A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8986



Internal ID15500212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70458602..70534965hg38UCSC Ensembl
Outerchr12:70852382..70928745hg19UCSC Ensembl
Outerchr12:69138649..69215012hg18UCSC Ensembl
Outerchr12:69138649..69215012hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3876364
hg1976364
hg1876364
hg1776364
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24045, nssv20824, nssv21107, nssv21359, nssv20716, nssv23227, nssv22018, nssv20436, nssv23851, nssv20583, nssv19652, nssv23011, nssv18580, nssv23893, nssv21015, nssv20686, nssv20034, nssv20570, nssv24134, nssv26051
SamplesNA18502, NA07029, NA18504, NA18563, NA12802, NA07048, NA10839, NA18975, NA10863, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesPTPRB
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)nsv8986
Frequency
Sample Size31
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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