A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13761



Internal ID15491589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16533055..16536806hg38UCSC Ensembl
Outerchr1:16532224..16537423hg38UCSC Ensembl
Innerchr1:16859550..16863301hg19UCSC Ensembl
Outerchr1:16858719..16863918hg19UCSC Ensembl
Innerchr1:16732137..16735888hg18UCSC Ensembl
Outerchr1:16731306..16736505hg18UCSC Ensembl
Innerchr1:16604856..16608607hg17UCSC Ensembl
Outerchr1:16604025..16609224hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385200
hg195200
hg185200
hg175200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18860
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)nssv13761
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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