A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24893



Internal ID15836208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196770945hg38UCSC Ensembl
Outerchr1:196742493..196773558hg38UCSC Ensembl
Innerchr1:196712053..196740075hg19UCSC Ensembl
Outerchr1:196711623..196742688hg19UCSC Ensembl
Innerchr1:194978676..195006698hg18UCSC Ensembl
Outerchr1:194978246..195009311hg18UCSC Ensembl
Innerchr1:193443710..193471732hg17UCSC Ensembl
Outerchr1:193443280..193474345hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3831066
hg1931066
hg1831066
hg1731066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18563
Known GenesCFH
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)nssv24893
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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