A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28428



Internal ID15831288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130410794..130420078hg38UCSC Ensembl
Outerchr2:130410160..130423912hg38UCSC Ensembl
Innerchr2:131168367..131177651hg19UCSC Ensembl
Outerchr2:131167733..131181485hg19UCSC Ensembl
Innerchr2:130884837..130894121hg18UCSC Ensembl
Outerchr2:130884203..130897955hg18UCSC Ensembl
Innerchr2:130884597..130893881hg17UCSC Ensembl
Outerchr2:130883963..130897715hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3813753
hg1913753
hg1813753
hg1713753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10169
Supporting Variants
SamplesNA12740
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)nssv28428
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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