A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25464



Internal ID15842233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91958020..91980823hg38UCSC Ensembl
Outerchr2:91957635..91981261hg38UCSC Ensembl
Innerchr2:92146046..92168849hg19UCSC Ensembl
Outerchr2:92145661..92169287hg19UCSC Ensembl
Innerchr2:91509773..91532576hg18UCSC Ensembl
Outerchr2:91509388..91533014hg18UCSC Ensembl
Innerchr2:91567920..91590723hg17UCSC Ensembl
Outerchr2:91567535..91591161hg17UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3823627
hg1923627
hg1823627
hg1723627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10085
Supporting Variants
SamplesNA19144
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)nssv25464
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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