A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15700



Internal ID15485061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4141654..4142435hg38UCSC Ensembl
Outerchr8:4141091..4143233hg38UCSC Ensembl
Innerchr8:3999176..3999957hg19UCSC Ensembl
Outerchr8:3998613..4000755hg19UCSC Ensembl
Innerchr8:3986584..3987365hg18UCSC Ensembl
Outerchr8:3986021..3988163hg18UCSC Ensembl
Innerchr8:3986584..3987365hg17UCSC Ensembl
Outerchr8:3986021..3988163hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382143
hg192143
hg182143
hg172143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA12802
Known GenesCSMD1
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)nssv15700
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