A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27735



Internal ID15489938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:420116..421229hg38UCSC Ensembl
Outerchr2:419612..421733hg38UCSC Ensembl
Innerchr2:420116..421229hg19UCSC Ensembl
Outerchr2:419612..421733hg19UCSC Ensembl
Innerchr2:410116..411229hg18UCSC Ensembl
Outerchr2:409612..411733hg18UCSC Ensembl
Innerchr2:410116..411229hg17UCSC Ensembl
Outerchr2:409612..411733hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382122
hg192122
hg182122
hg172122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
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)nssv27735
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