A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14788



Internal ID15496024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41187..105996hg38UCSC Ensembl
Outerchr1:37889..106394hg38UCSC Ensembl
Innerchr1:41187..105996hg19UCSC Ensembl
Outerchr1:37889..106394hg19UCSC Ensembl
Innerchr1:31050..95859hg18UCSC Ensembl
Outerchr1:27752..96257hg18UCSC Ensembl
Innerchr1:31050..95859hg17UCSC Ensembl
Outerchr1:27752..96257hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3868506
hg1968506
hg1868506
hg1768506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA19144
Known GenesOR4F5
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)nssv14788
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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