A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28593



Internal ID15840178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130021481..130028705hg38UCSC Ensembl
Outerchr2:130020443..130029244hg38UCSC Ensembl
Innerchr2:130779054..130786278hg19UCSC Ensembl
Outerchr2:130778016..130786817hg19UCSC Ensembl
Innerchr2:130495524..130502748hg18UCSC Ensembl
Outerchr2:130494486..130503287hg18UCSC Ensembl
Innerchr2:130495284..130502508hg17UCSC Ensembl
Outerchr2:130494246..130503047hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
hg178802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10158
Supporting Variants
SamplesNA18975
Known GenesFAR2P1
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)nssv28593
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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