A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13105



Internal ID15494188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103573177..103583020hg38UCSC Ensembl
Outerchr1:103572532..103583708hg38UCSC Ensembl
Innerchr1:104115799..104125642hg19UCSC Ensembl
Outerchr1:104115154..104126330hg19UCSC Ensembl
Innerchr1:103917322..103927165hg18UCSC Ensembl
Outerchr1:103916677..103927853hg18UCSC Ensembl
Innerchr1:103827820..103837663hg17UCSC Ensembl
Outerchr1:103827175..103838351hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3811177
hg1911177
hg1811177
hg1711177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18980
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)nssv13105
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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