A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26556



Internal ID15486309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:438572..439660hg38UCSC Ensembl
Outerchr2:437844..440702hg38UCSC Ensembl
Innerchr2:438572..439660hg19UCSC Ensembl
Outerchr2:437844..440702hg19UCSC Ensembl
Innerchr2:428572..429660hg18UCSC Ensembl
Outerchr2:427844..430702hg18UCSC Ensembl
Innerchr2:428572..429660hg17UCSC Ensembl
Outerchr2:427844..430702hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382859
hg192859
hg182859
hg172859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18502
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)nssv26556
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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