A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21427



Internal ID15483259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12849530..12854650hg38UCSC Ensembl
Outerchr1:12848985..12855370hg38UCSC Ensembl
Innerchr1:12909383..12914503hg19UCSC Ensembl
Outerchr1:12908838..12915224hg19UCSC Ensembl
Innerchr1:12831970..12837090hg18UCSC Ensembl
Outerchr1:12831425..12837811hg18UCSC Ensembl
Innerchr1:12843649..12848769hg17UCSC Ensembl
Outerchr1:12843104..12849490hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg386386
hg196387
hg186387
hg176387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA11830
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)nssv21427
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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