A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461569



Internal ID15174948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86057994..86058774hg38UCSC Ensembl
Innerchr4:86979147..86979927hg19UCSC Ensembl
Innerchr4:87198171..87198951hg18UCSC Ensembl
Innerchr4:87336326..87337106hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38781
hg19781
hg18781
hg17781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv660n27
Supporting Variantsnssv537944
SamplesHGDP00627
Known GenesMAPK10
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv461569
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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