A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461579



Internal ID15521644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89651171..89703702hg38UCSC Ensembl
Innerchr4:90572322..90624853hg19UCSC Ensembl
Innerchr4:90791345..90843876hg18UCSC Ensembl
Innerchr4:90929500..90982031hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3852532
hg1952532
hg1852532
hg1752532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv661n27
Supporting Variantsnssv537954
SamplesHGDP00392
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)nsv461579
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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