A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9824



Internal ID15847736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:56055041..56164948hg38UCSC Ensembl
Outerchr2:56282176..56392083hg19UCSC Ensembl
Outerchr2:56135680..56245587hg18UCSC Ensembl
Outerchr2:56193827..56303734hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38109908
hg19109908
hg18109908
hg17109908
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27404, nssv28093
SamplesNA18504, NA18563
Known Genes
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)nsv9824
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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