A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461882



Internal ID15521947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189310262..189835327hg38UCSC Ensembl
Innerchr4:190231416..190756482hg19UCSC Ensembl
Innerchr4:190468410..190993476hg18UCSC Ensembl
Innerchr4:190606565..191131631hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38525066
hg19525067
hg18525067
hg17525067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538210
SamplesHGDP00057
Known Genes
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)nsv461882
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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