A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15239



Internal ID15496294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:158236002..158237695hg38UCSC Ensembl
Outerchr6:158234675..158238091hg38UCSC Ensembl
Innerchr6:158657034..158658727hg19UCSC Ensembl
Outerchr6:158655707..158659123hg19UCSC Ensembl
Innerchr6:158577022..158578715hg18UCSC Ensembl
Outerchr6:158575695..158579111hg18UCSC Ensembl
Innerchr6:158627443..158629136hg17UCSC Ensembl
Outerchr6:158626116..158629532hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg383417
hg193417
hg183417
hg173417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7982
Supporting Variants
SamplesNA19173
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)nssv15239
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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