A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463960



Internal ID15524025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92802607..92860714hg38UCSC Ensembl
Innerchr6:93512325..93570432hg19UCSC Ensembl
Innerchr6:93569046..93627153hg18UCSC Ensembl
Innerchr6:93569046..93627153hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3858108
hg1958108
hg1858108
hg1758108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539970
SamplesHGDP01336
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)nsv463960
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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