A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14728



Internal ID15842712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32590805..32591752hg38UCSC Ensembl
Outerchr6:32590144..32592084hg38UCSC Ensembl
Innerchr6:32558582..32559529hg19UCSC Ensembl
Outerchr6:32557921..32559861hg19UCSC Ensembl
Innerchr6:32666560..32667507hg18UCSC Ensembl
Outerchr6:32665899..32667839hg18UCSC Ensembl
Innerchr6:32666560..32667507hg17UCSC Ensembl
Outerchr6:32665899..32667839hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381941
hg191941
hg181941
hg171941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19144
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)nssv14728
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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