A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27400



Internal ID15486588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:420116..421034hg38UCSC Ensembl
Outerchr2:419612..421229hg38UCSC Ensembl
Innerchr2:420116..421034hg19UCSC Ensembl
Outerchr2:419612..421229hg19UCSC Ensembl
Innerchr2:410116..411034hg18UCSC Ensembl
Outerchr2:409612..411229hg18UCSC Ensembl
Innerchr2:410116..411034hg17UCSC Ensembl
Outerchr2:409612..411229hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381618
hg191618
hg181618
hg171618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18504
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)nssv27400
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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