A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14081



Internal ID15485781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103596922..103609949hg38UCSC Ensembl
Outerchr1:103587923..103610285hg38UCSC Ensembl
Innerchr1:104139544..104152571hg19UCSC Ensembl
Outerchr1:104130545..104152907hg19UCSC Ensembl
Innerchr1:103941067..103954094hg18UCSC Ensembl
Outerchr1:103932068..103954430hg18UCSC Ensembl
Innerchr1:103851565..103864592hg17UCSC Ensembl
Outerchr1:103842566..103864928hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3822363
hg1922363
hg1822363
hg1722363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12872
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)nssv14081
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