A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461577



Internal ID15174956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88982973..89065175hg38UCSC Ensembl
Innerchr4:89904124..89986326hg19UCSC Ensembl
Innerchr4:90123147..90205349hg18UCSC Ensembl
Innerchr4:90261302..90343504hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3882203
hg1982203
hg1882203
hg1782203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537952
SamplesHGDP00541
Known GenesFAM13A
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)nsv461577
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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