A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15098



Internal ID15483791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103573177..103576124hg38UCSC Ensembl
Outerchr1:103572532..103576630hg38UCSC Ensembl
Innerchr1:104115799..104118746hg19UCSC Ensembl
Outerchr1:104115154..104119252hg19UCSC Ensembl
Innerchr1:103917322..103920269hg18UCSC Ensembl
Outerchr1:103916677..103920775hg18UCSC Ensembl
Innerchr1:103827820..103830767hg17UCSC Ensembl
Outerchr1:103827175..103831273hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
hg174099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12155
Known GenesAMY2B
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)nssv15098
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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