A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13098



Internal ID15489781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13472715..13494266hg19UCSC Ensembl
Outerchr1:13468883..13495235hg19UCSC Ensembl
Innerchr1:13345302..13366853hg18UCSC Ensembl
Outerchr1:13341470..13367822hg18UCSC Ensembl
Innerchr1:13218021..13239572hg17UCSC Ensembl
Outerchr1:13214189..13240541hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg1926353
hg1826353
hg1726353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known GenesPRAMEF18, PRAMEF19
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)nssv13098
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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