A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10488



Internal ID15845451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44963261..45009599hg38UCSC Ensembl
Outerchr4:44965278..45011616hg19UCSC Ensembl
Outerchr4:44660035..44706373hg18UCSC Ensembl
Outerchr4:44806206..44852544hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3846339
hg1946339
hg1846339
hg1746339
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14070, nssv13047, nssv11495
SamplesNA10847, NA19221, NA19132
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)nsv10488
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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