A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15116



Internal ID15494721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103573177..103579356hg38UCSC Ensembl
Outerchr1:103572532..103579691hg38UCSC Ensembl
Innerchr1:104115799..104121978hg19UCSC Ensembl
Outerchr1:104115154..104122313hg19UCSC Ensembl
Innerchr1:103917322..103923501hg18UCSC Ensembl
Outerchr1:103916677..103923836hg18UCSC Ensembl
Innerchr1:103827820..103833999hg17UCSC Ensembl
Outerchr1:103827175..103834334hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387160
hg197160
hg187160
hg177160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA19007
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)nssv15116
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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