A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28508



Internal ID15484664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131191969hg38UCSC Ensembl
Outerchr2:131158153..131192666hg38UCSC Ensembl
Innerchr2:131934302..131949542hg19UCSC Ensembl
Outerchr2:131915726..131950239hg19UCSC Ensembl
Innerchr2:131650772..131666012hg18UCSC Ensembl
Outerchr2:131632196..131666709hg18UCSC Ensembl
Innerchr2:131768034..131783274hg17UCSC Ensembl
Outerchr2:131749458..131783971hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3834514
hg1934514
hg1834514
hg1734514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA12740
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)nssv28508
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer