A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25439



Internal ID15827706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13442143..13457012hg38UCSC Ensembl
Outerchr2:13439704..13457596hg38UCSC Ensembl
Innerchr2:13582268..13597137hg19UCSC Ensembl
Outerchr2:13579829..13597721hg19UCSC Ensembl
Innerchr2:13499719..13514588hg18UCSC Ensembl
Outerchr2:13497280..13515172hg18UCSC Ensembl
Innerchr2:13532866..13547735hg17UCSC Ensembl
Outerchr2:13530427..13548319hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3817893
hg1917893
hg1817893
hg1717893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9391
Supporting Variants
SamplesNA07048
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)nssv25439
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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