A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22428



Internal ID15490003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148506238..148520163hg38UCSC Ensembl
Outerchr1:148502266..148521427hg38UCSC Ensembl
Innerchr1:147978421..147992390hg19UCSC Ensembl
Outerchr1:147974783..147992989hg19UCSC Ensembl
Innerchr1:146445045..146459014hg18UCSC Ensembl
Outerchr1:146441407..146459613hg18UCSC Ensembl
Innerchr1:145093333..145107302hg17UCSC Ensembl
Outerchr1:145089695..145107901hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3819162
hg1918207
hg1818207
hg1718207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA18564
Known GenesNBPF10, NBPF8
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)nssv22428
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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