A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20655



Internal ID15834668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3196601..3197257hg38UCSC Ensembl
Outerchr12:3195384..3198931hg38UCSC Ensembl
Innerchr12:3305767..3306423hg19UCSC Ensembl
Outerchr12:3304550..3308097hg19UCSC Ensembl
Innerchr12:3176028..3176684hg18UCSC Ensembl
Outerchr12:3174811..3178358hg18UCSC Ensembl
Innerchr12:3176028..3176684hg17UCSC 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 StatusS
Merged Variantsnsv8890
Supporting Variants
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)nssv20655
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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