A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24302



Internal ID15844736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196747844..196852263hg38UCSC Ensembl
Outerchr1:196747369..196852687hg38UCSC Ensembl
Innerchr1:196716974..196821393hg19UCSC Ensembl
Outerchr1:196716499..196821817hg19UCSC Ensembl
Innerchr1:194983597..195088016hg18UCSC Ensembl
Outerchr1:194983122..195088440hg18UCSC Ensembl
Innerchr1:193448631..193553050hg17UCSC Ensembl
Outerchr1:193448156..193553474hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38105319
hg19105319
hg18105319
hg17105319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19240
Known GenesCFH, CFHR1, 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)nssv24302
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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