A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28111



Internal ID15844615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61476195..61477560hg38UCSC Ensembl
Outerchr2:61475414..61478254hg38UCSC Ensembl
Innerchr2:61703330..61704695hg19UCSC Ensembl
Outerchr2:61702549..61705389hg19UCSC Ensembl
Innerchr2:61556834..61558199hg18UCSC Ensembl
Outerchr2:61556053..61558893hg18UCSC Ensembl
Innerchr2:61614981..61616346hg17UCSC Ensembl
Outerchr2:61614200..61617040hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg382841
hg192841
hg182841
hg172841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9935
Supporting Variants
SamplesNA19240
Known GenesXPO1
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)nssv28111
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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