A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461566



Internal ID15174945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85066879..85804349hg38UCSC Ensembl
Innerchr4:85988032..86725502hg19UCSC Ensembl
Innerchr4:86207056..86944526hg18UCSC Ensembl
Innerchr4:86345211..87082681hg17UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38737471
hg19737471
hg18737471
hg17737471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537941
SamplesHGDP00950
Known GenesARHGAP24, MIR4451
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)nsv461566
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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