A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19963



Internal ID15833762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140992676..140994195hg38UCSC Ensembl
Outerchr8:140991627..141031581hg38UCSC Ensembl
Innerchr8:142002775..142004294hg19UCSC Ensembl
Outerchr8:142001726..142041680hg19UCSC Ensembl
Innerchr8:142071957..142073476hg18UCSC Ensembl
Outerchr8:142070908..142110862hg18UCSC Ensembl
Innerchr8:142071957..142073476hg17UCSC Ensembl
Outerchr8:142070908..142110862hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3839955
hg1939955
hg1839955
hg1739955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8392
Supporting Variants
SamplesNA18504
Known GenesPTK2
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)nssv19963
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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