A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21069



Internal ID15831481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196748689..196842084hg38UCSC Ensembl
Outerchr1:196748223..196842271hg38UCSC Ensembl
Innerchr1:196717819..196811214hg19UCSC Ensembl
Outerchr1:196717353..196811401hg19UCSC Ensembl
Innerchr1:194984442..195077837hg18UCSC Ensembl
Outerchr1:194983976..195078024hg18UCSC Ensembl
Innerchr1:193449476..193542871hg17UCSC Ensembl
Outerchr1:193449010..193543058hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3894049
hg1994049
hg1894049
hg1794049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA12740
Known GenesCFHR1, CFHR3
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)nssv21069
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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