A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461296



Internal ID15521361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25555425..25575562hg38UCSC Ensembl
Innerchr4:25557047..25577184hg19UCSC Ensembl
Innerchr4:25166145..25186282hg18UCSC Ensembl
Innerchr4:25233316..25253453hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3820138
hg1920138
hg1820138
hg1720138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv649n27
Supporting Variantsnssv537704
SamplesHGDP00602
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)nsv461296
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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