A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25956



Internal ID15835350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:59439551..59446789hg38UCSC Ensembl
Outerchr2:59438409..59447245hg38UCSC Ensembl
Innerchr2:59666686..59673924hg19UCSC Ensembl
Outerchr2:59665544..59674380hg19UCSC Ensembl
Innerchr2:59520190..59527428hg18UCSC Ensembl
Outerchr2:59519048..59527884hg18UCSC Ensembl
Innerchr2:59578337..59585575hg17UCSC Ensembl
Outerchr2:59577195..59586031hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg388837
hg198837
hg188837
hg178837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9902
Supporting Variants
SamplesNA18552
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)nssv25956
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