A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28394



Internal ID15834891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132255826..132277674hg38UCSC Ensembl
Outerchr2:132255455..132278503hg38UCSC Ensembl
Innerchr2:133013399..133035247hg19UCSC Ensembl
Outerchr2:133013028..133036076hg19UCSC Ensembl
Innerchr2:132729869..132751717hg18UCSC Ensembl
Outerchr2:132729498..132752546hg18UCSC Ensembl
Innerchr2:132847131..132868979hg17UCSC Ensembl
Outerchr2:132846760..132869808hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3823049
hg1923049
hg1823049
hg1723049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA18537
Known GenesANKRD30BL, MIR663B
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)nssv28394
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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