A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9618



Internal ID15847530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14784249..14817725hg38UCSC Ensembl
Outerchr18:14784248..14817724hg19UCSC Ensembl
Outerchr18:14774248..14807724hg18UCSC Ensembl
Outerchr18:14774248..14807724hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3833477
hg1933477
hg1833477
hg1733477
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26592, nssv21641
SamplesNA18504, NA12872
Known GenesANKRD30B
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)nsv9618
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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