A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13435



Internal ID15494262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103596922..103602396hg38UCSC Ensembl
Outerchr1:103587923..103603023hg38UCSC Ensembl
Innerchr1:104139544..104145018hg19UCSC Ensembl
Outerchr1:104130545..104145645hg19UCSC Ensembl
Innerchr1:103941067..103946541hg18UCSC Ensembl
Outerchr1:103932068..103947168hg18UCSC Ensembl
Innerchr1:103851565..103857039hg17UCSC Ensembl
Outerchr1:103842566..103857666hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3815101
hg1915101
hg1815101
hg1715101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18980
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)nssv13435
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