A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462986



Internal ID15523051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65436926..65522799hg38UCSC Ensembl
Innerchr6:66146819..66232692hg19UCSC Ensembl
Innerchr6:66203540..66289413hg18UCSC Ensembl
Innerchr6:66203540..66289413hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3885874
hg1985874
hg1885874
hg1785874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv756n27
Supporting Variantsnssv539026
SamplesHGDP00146
Known GenesEYS
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)nsv462986
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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