A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24898



Internal ID15839138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832078..196839454hg38UCSC Ensembl
Outerchr1:196831656..196842084hg38UCSC Ensembl
Innerchr1:196801208..196808584hg19UCSC Ensembl
Outerchr1:196800786..196811214hg19UCSC Ensembl
Innerchr1:195067831..195075207hg18UCSC Ensembl
Outerchr1:195067409..195077837hg18UCSC Ensembl
Innerchr1:193532865..193540241hg17UCSC Ensembl
Outerchr1:193532443..193542871hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3810429
hg1910429
hg1810429
hg1710429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18942
Known GenesCFHR1
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)nssv24898
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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