A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23391



Internal ID15840681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13443587..13457596hg38UCSC Ensembl
Outerchr2:13442143..13458191hg38UCSC Ensembl
Innerchr2:13583712..13597721hg19UCSC Ensembl
Outerchr2:13582268..13598316hg19UCSC Ensembl
Innerchr2:13501163..13515172hg18UCSC Ensembl
Outerchr2:13499719..13515767hg18UCSC Ensembl
Innerchr2:13534310..13548319hg17UCSC Ensembl
Outerchr2:13532866..13548914hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3816049
hg1916049
hg1816049
hg1716049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9391
Supporting Variants
SamplesNA18980
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)nssv23391
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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