A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9979



Internal ID15847891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66277602..66282572hg38UCSC Ensembl
Outerchr2:66504734..66509704hg19UCSC Ensembl
Outerchr2:66358238..66363208hg18UCSC Ensembl
Outerchr2:66416385..66421355hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384971
hg194971
hg184971
hg174971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28298, nssv26191, nssv27834, nssv26180, nssv26563
SamplesNA18563, NA19007, NA18572, NA18537, NA18564
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)nsv9979
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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