A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11873



Internal ID15492513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131192666hg38UCSC Ensembl
Outerchr2:131158153..131193816hg38UCSC Ensembl
Innerchr2:131934302..131950239hg19UCSC Ensembl
Outerchr2:131915726..131951389hg19UCSC Ensembl
Innerchr2:131650772..131666709hg18UCSC Ensembl
Outerchr2:131632196..131667859hg18UCSC Ensembl
Innerchr2:131768034..131783971hg17UCSC Ensembl
Outerchr2:131749458..131785121hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3835664
hg1935664
hg1835664
hg1735664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18972
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)nssv11873
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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