A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8924



Internal ID15500150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236712419..236716208hg38UCSC Ensembl
Outerchr1:236875719..236879508hg19UCSC Ensembl
Outerchr1:234942342..234946131hg18UCSC Ensembl
Outerchr1:233201760..233205549hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383790
hg193790
hg183790
hg173790
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27145, nssv25717, nssv25697, nssv25467, nssv24889, nssv23989, nssv22744, nssv24588, nssv22747, nssv27942, nssv27513, nssv27285, nssv27296, nssv22415, nssv22748
SamplesNA18502, NA07029, NA18504, NA12155, NA12802, NA18942, NA10847, NA10863, NA19221, NA19132, NA18517, NA18564, NA19240, NA12740, NA19173
Known GenesACTN2
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)nsv8924
Frequency
Sample Size31
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer