A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29178



Internal ID15491745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131327916..131327952hg38UCSC Ensembl
Outerchr2:131327602..131328935hg38UCSC Ensembl
Innerchr2:132085489..132085525hg19UCSC Ensembl
Outerchr2:132085175..132086508hg19UCSC Ensembl
Innerchr2:131801959..131801995hg18UCSC Ensembl
Outerchr2:131801645..131802978hg18UCSC Ensembl
Innerchr2:131919221..131919257hg17UCSC Ensembl
Outerchr2:131918907..131920240hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381334
hg191334
hg181334
hg171334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18860
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)nssv29178
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