A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22429



Internal ID15836952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161441721..161481455hg38UCSC Ensembl
Outerchr1:161440689..161481926hg38UCSC Ensembl
Innerchr1:161411511..161451245hg19UCSC Ensembl
Outerchr1:161410479..161451716hg19UCSC Ensembl
Innerchr1:159678135..159717869hg18UCSC Ensembl
Outerchr1:159677103..159718340hg18UCSC Ensembl
Innerchr1:158224584..158264300hg17UCSC Ensembl
Outerchr1:158223552..158264771hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3841238
hg1941238
hg1841238
hg1741220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA18572
Known Genes
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)nssv22429
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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