A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9603



Internal ID15500829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4008420..4010770hg38UCSC Ensembl
Outerchr18:4008420..4010770hg19UCSC Ensembl
Outerchr18:3998420..4000770hg18UCSC Ensembl
Outerchr18:3998420..4000770hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382351
hg192351
hg182351
hg172351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24487
SamplesNA10839
Known GenesDLGAP1, DLGAP1-AS4
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)nsv9603
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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