A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10047



Internal ID15845010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:77666469..77690432hg38UCSC Ensembl
Outerchr2:77893595..77917558hg19UCSC Ensembl
Outerchr2:77747103..77771066hg18UCSC Ensembl
Outerchr2:77805250..77829213hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3823964
hg1923964
hg1823964
hg1723964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27033
SamplesNA19007
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)nsv10047
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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