A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15096



Internal ID15482665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103573177..103758361hg38UCSC Ensembl
Outerchr1:103572532..103758514hg38UCSC Ensembl
Innerchr1:104115799..104300983hg19UCSC Ensembl
Outerchr1:104115154..104301136hg19UCSC Ensembl
Innerchr1:103917322..104102506hg18UCSC Ensembl
Outerchr1:103916677..104102659hg18UCSC Ensembl
Innerchr1:103827820..104013004hg17UCSC Ensembl
Outerchr1:103827175..104013157hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38185983
hg19185983
hg18185983
hg17185983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA10863
Known GenesAMY1A, AMY1B, AMY1C, AMY2A, 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)nssv15096
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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