A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8702



Internal ID15499928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196974722..196985445hg38UCSC Ensembl
Outerchr1:196943852..196954575hg19UCSC Ensembl
Outerchr1:195210475..195221198hg18UCSC Ensembl
Outerchr1:193675509..193686232hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3810724
hg1910724
hg1810724
hg1710724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23703
SamplesNA19132
Known GenesCFHR5
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)nsv8702
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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