A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12949



Internal ID15837150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32482203..32482943hg38UCSC Ensembl
Outerchr6:32481892..32483277hg38UCSC Ensembl
Innerchr6:32449980..32450720hg19UCSC Ensembl
Outerchr6:32449669..32451054hg19UCSC Ensembl
Innerchr6:32557958..32558698hg18UCSC Ensembl
Outerchr6:32557647..32559032hg18UCSC Ensembl
Innerchr6:32557958..32558698hg17UCSC Ensembl
Outerchr6:32557647..32559032hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381386
hg191386
hg181386
hg171386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18572
Known Genes
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)nssv12949
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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