A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8802



Internal ID15846714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218028539..218033505hg38UCSC Ensembl
Outerchr1:218201881..218206847hg19UCSC Ensembl
Outerchr1:216268504..216273470hg18UCSC Ensembl
Outerchr1:214590276..214595242hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384967
hg194967
hg184967
hg174967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23984
SamplesNA11830
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)nsv8802
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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