A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8973



Internal ID15500199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54105776..54118380hg38UCSC Ensembl
Outerchr12:54499560..54512164hg19UCSC Ensembl
Outerchr12:52785827..52798431hg18UCSC Ensembl
Outerchr12:52785827..52798431hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3812605
hg1912605
hg1812605
hg1712605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24018
SamplesNA18517
Known GenesFLJ12825
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)nsv8973
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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