A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28916



Internal ID15842977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130410794..130420055hg38UCSC Ensembl
Outerchr2:130410160..130420078hg38UCSC Ensembl
Innerchr2:131168367..131177628hg19UCSC Ensembl
Outerchr2:131167733..131177651hg19UCSC Ensembl
Innerchr2:130884837..130894098hg18UCSC Ensembl
Outerchr2:130884203..130894121hg18UCSC Ensembl
Innerchr2:130884597..130893858hg17UCSC Ensembl
Outerchr2:130883963..130893881hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg389919
hg199919
hg189919
hg179919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10169
Supporting Variants
SamplesNA19173
Known GenesFAR2P2
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)nssv28916
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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