A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14738



Internal ID15484269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103561159..103572532hg38UCSC Ensembl
Outerchr1:103560606..103573177hg38UCSC Ensembl
Innerchr1:104103781..104115154hg19UCSC Ensembl
Outerchr1:104103228..104115799hg19UCSC Ensembl
Innerchr1:103905304..103916677hg18UCSC Ensembl
Outerchr1:103904751..103917322hg18UCSC Ensembl
Innerchr1:103815802..103827175hg17UCSC Ensembl
Outerchr1:103815249..103827820hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3812572
hg1912572
hg1812572
hg1712572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12155
Known GenesACTG1P4, AMY2B
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)nssv14738
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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