A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28815



Internal ID15836569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126365330..126365901hg38UCSC Ensembl
Outerchr2:126365061..126366893hg38UCSC Ensembl
Innerchr2:127122907..127123478hg19UCSC Ensembl
Outerchr2:127122638..127124470hg19UCSC Ensembl
Innerchr2:126839377..126839948hg18UCSC Ensembl
Outerchr2:126839108..126840940hg18UCSC Ensembl
Innerchr2:126839137..126839708hg17UCSC Ensembl
Outerchr2:126838868..126840700hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381833
hg191833
hg181833
hg171833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10141
Supporting Variants
SamplesNA18564
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)nssv28815
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