A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28869



Internal ID15486396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131179800hg38UCSC Ensembl
Outerchr2:131158153..131181009hg38UCSC Ensembl
Innerchr2:131934302..131937373hg19UCSC Ensembl
Outerchr2:131915726..131938582hg19UCSC Ensembl
Innerchr2:131650772..131653843hg18UCSC Ensembl
Outerchr2:131632196..131655052hg18UCSC Ensembl
Innerchr2:131768034..131771105hg17UCSC Ensembl
Outerchr2:131749458..131772314hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3822857
hg1922857
hg1822857
hg1722857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18502
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)nssv28869
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