A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27637



Internal ID15842684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130410794..130419024hg38UCSC Ensembl
Outerchr2:130410152..130420055hg38UCSC Ensembl
Innerchr2:131168367..131176597hg19UCSC Ensembl
Outerchr2:131167725..131177628hg19UCSC Ensembl
Innerchr2:130884837..130893067hg18UCSC Ensembl
Outerchr2:130884195..130894098hg18UCSC Ensembl
Innerchr2:130884597..130892827hg17UCSC Ensembl
Outerchr2:130883955..130893858hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg389904
hg199904
hg189904
hg179904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10169
Supporting Variants
SamplesNA19144
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)nssv27637
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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