A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19520



Internal ID15491172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133438846..133567625hg38UCSC Ensembl
Outerchr10:133433659..133568450hg38UCSC Ensembl
Innerchr10:135252350..135381129hg19UCSC Ensembl
Outerchr10:135247163..135381954hg19UCSC Ensembl
Innerchr10:135102340..135231119hg18UCSC Ensembl
Outerchr10:135097153..135231944hg18UCSC Ensembl
Innerchr10:135141231..135270010hg17UCSC Ensembl
Outerchr10:135136044..135270835hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38134792
hg19134792
hg18134792
hg17134792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8752
Supporting Variants
SamplesNA18853
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
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)nssv19520
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