A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14570



Internal ID15837484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105210691..105211860hg38UCSC Ensembl
Outerchr6:105210216..105212840hg38UCSC Ensembl
Innerchr6:105658566..105659735hg19UCSC Ensembl
Outerchr6:105658091..105660715hg19UCSC Ensembl
Innerchr6:105765259..105766428hg18UCSC Ensembl
Outerchr6:105764784..105767408hg18UCSC Ensembl
Innerchr6:105765259..105766428hg17UCSC Ensembl
Outerchr6:105764784..105767408hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382625
hg192625
hg182625
hg172625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7952
Supporting Variants
SamplesNA18853
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)nssv14570
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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