A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10568



Internal ID15845531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131720719..131974568hg38UCSC Ensembl
Outerchr4:132641874..132895723hg19UCSC Ensembl
Outerchr4:132861324..133115173hg18UCSC Ensembl
Outerchr4:132999479..133253328hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38253850
hg19253850
hg18253850
hg17253850
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13813, nssv13491, nssv12633, nssv13461, nssv12137, nssv12669, nssv14640, nssv12136, nssv14610, nssv12871
SamplesNA18504, NA18563, NA18860, NA07048, NA19221, NA19240, NA12740, NA18552
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)nsv10568
Frequency
Sample Size31
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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