A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29259



Internal ID15485957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13263370..13302632hg38UCSC Ensembl
Outerchr1:13262881..13302712hg38UCSC Ensembl
Innerchr1:13368992..13408228hg19UCSC Ensembl
Outerchr1:13368503..13408308hg19UCSC Ensembl
Innerchr1:13241579..13280815hg18UCSC Ensembl
Outerchr1:13241090..13280895hg18UCSC Ensembl
Innerchr1:13114298..13153534hg17UCSC Ensembl
Outerchr1:13113809..13153614hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3839832
hg1939806
hg1839806
hg1739806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18502
Known GenesPRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv29259
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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