A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26867



Internal ID15840130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36109588..36112162hg38UCSC Ensembl
Outerchr2:36104675..36118761hg38UCSC Ensembl
Innerchr2:36336731..36339305hg19UCSC Ensembl
Outerchr2:36331818..36345904hg19UCSC Ensembl
Innerchr2:36190235..36192809hg18UCSC Ensembl
Outerchr2:36185322..36199408hg18UCSC Ensembl
Innerchr2:36248382..36250956hg17UCSC Ensembl
Outerchr2:36243469..36257555hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3814087
hg1914087
hg1814087
hg1714087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9591
Supporting Variants
SamplesNA18975
Known Genes
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)nssv26867
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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