A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28935



Internal ID15489955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13016805..13141866hg19UCSC Ensembl
Outerchr1:13015841..13142238hg19UCSC Ensembl
Innerchr1:12939392..13064453hg18UCSC Ensembl
Outerchr1:12938428..13064825hg18UCSC Ensembl
Innerchr1:12951071..12965849hg17UCSC Ensembl
Outerchr1:12950107..12966221hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg19126398
hg18126398
hg1716115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known GenesPRAMEF22, PRAMEF23, PRAMEF5
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)nssv28935
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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