A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18442



Internal ID15492056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148444235..148530109hg38UCSC Ensembl
Outerchr1:148443957..148531318hg38UCSC Ensembl
Innerchr1:147916342..148001657hg19UCSC Ensembl
Outerchr1:147916064..148002859hg19UCSC Ensembl
Innerchr1:146382966..146468281hg18UCSC Ensembl
Outerchr1:146382688..146469483hg18UCSC Ensembl
Innerchr1:145031254..145116569hg17UCSC Ensembl
Outerchr1:145030976..145117771hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3887362
hg1986796
hg1886796
hg1786796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA18942
Known GenesLINC01138, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)nssv18442
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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