A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29275



Internal ID15495970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13309362..13315698hg38UCSC Ensembl
Outerchr1:13308717..13316718hg38UCSC Ensembl
Innerchr1:13414957..13421293hg19UCSC Ensembl
Outerchr1:13414312..13422313hg19UCSC Ensembl
Innerchr1:13287544..13293880hg18UCSC Ensembl
Outerchr1:13286899..13294900hg18UCSC Ensembl
Innerchr1:13160263..13166599hg17UCSC Ensembl
Outerchr1:13159618..13167619hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388002
hg198002
hg188002
hg178002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19144
Known GenesPRAMEF15, PRAMEF9
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)nssv29275
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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