A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7894



Internal ID15845806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:46734952..46737126hg38UCSC Ensembl
Outerchr6:46702689..46704863hg19UCSC Ensembl
Outerchr6:46810648..46812822hg18UCSC Ensembl
Outerchr6:46810648..46812822hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382175
hg192175
hg182175
hg172175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14557
SamplesNA11830
Known GenesPLA2G7
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)nsv7894
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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