A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22757



Internal ID15837098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742493..196851194hg38UCSC Ensembl
Outerchr1:196742004..196852263hg38UCSC Ensembl
Innerchr1:196711623..196820324hg19UCSC Ensembl
Outerchr1:196711134..196821393hg19UCSC Ensembl
Innerchr1:194978246..195086947hg18UCSC Ensembl
Outerchr1:194977757..195088016hg18UCSC Ensembl
Innerchr1:193443280..193551981hg17UCSC Ensembl
Outerchr1:193442791..193553050hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110260
hg19110260
hg18110260
hg17110260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18572
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)nssv22757
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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