A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19041



Internal ID15491267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4431520..4432387hg38UCSC Ensembl
Outerchr8:4430811..4433419hg38UCSC Ensembl
Innerchr8:4289042..4289909hg19UCSC Ensembl
Outerchr8:4288333..4290941hg19UCSC Ensembl
Innerchr8:4276450..4277317hg18UCSC Ensembl
Outerchr8:4275741..4278349hg18UCSC Ensembl
Innerchr8:4276450..4277317hg17UCSC Ensembl
Outerchr8:4275741..4278349hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382609
hg192609
hg182609
hg172609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18860
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)nssv19041
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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