A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8890



Internal ID15846802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3195384..3198931hg38UCSC Ensembl
Outerchr12:3304550..3308097hg19UCSC Ensembl
Outerchr12:3174811..3178358hg18UCSC Ensembl
Outerchr12:3174811..3178358hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383548
hg193548
hg183548
hg173548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20655
SamplesNA18537
Known GenesTSPAN9
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)nsv8890
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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