A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24345



Internal ID15492413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46636993..46637624hg38UCSC Ensembl
Outerchr21:46636625..46638319hg38UCSC Ensembl
Innerchr21:48056905..48057536hg19UCSC Ensembl
Outerchr21:48056537..48058231hg19UCSC Ensembl
Innerchr21:46881333..46881964hg18UCSC Ensembl
Outerchr21:46880965..46882659hg18UCSC Ensembl
Innerchr21:46881333..46881964hg17UCSC Ensembl
Outerchr21:46880965..46882659hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381695
hg191695
hg181695
hg171695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9864
Supporting Variants
SamplesNA18942
Known GenesPRMT2
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)nssv24345
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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