A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18434



Internal ID15487682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103561159..103597900hg38UCSC Ensembl
Outerchr1:103560606..103598380hg38UCSC Ensembl
Innerchr1:104103781..104140522hg19UCSC Ensembl
Outerchr1:104103228..104141002hg19UCSC Ensembl
Innerchr1:103905304..103942045hg18UCSC Ensembl
Outerchr1:103904751..103942525hg18UCSC Ensembl
Innerchr1:103815802..103852543hg17UCSC Ensembl
Outerchr1:103815249..103853023hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3837775
hg1937775
hg1837775
hg1737775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18517
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)nssv18434
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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