A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16372



Internal ID15838844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375819..39528608hg38UCSC Ensembl
Outerchr8:39375237..39531387hg38UCSC Ensembl
Innerchr8:39233338..39386127hg19UCSC Ensembl
Outerchr8:39232756..39388906hg19UCSC Ensembl
Innerchr8:39352495..39505284hg18UCSC Ensembl
Outerchr8:39351913..39508063hg18UCSC Ensembl
Innerchr8:39352495..39505284hg17UCSC Ensembl
Outerchr8:39351913..39508063hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38156151
hg19156151
hg18156151
hg17156151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8331
Supporting Variants
SamplesNA18942
Known GenesADAM3A, ADAM5
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)nssv16372
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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