A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9047



Internal ID15500273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246575913..246579236hg38UCSC Ensembl
Outerchr1:246739215..246742538hg19UCSC Ensembl
Outerchr1:244805838..244809161hg18UCSC Ensembl
Outerchr1:243065256..243068579hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383324
hg193324
hg183324
hg173324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26178
SamplesNA18504
Known GenesCNST
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)nsv9047
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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