A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456208



Internal ID15516273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35918522..35961257hg38UCSC Ensembl
Innerchr14:36387728..36430463hg19UCSC Ensembl
Innerchr14:35457479..35500214hg18UCSC Ensembl
Innerchr14:35457479..35500214hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3842736
hg1942736
hg1842736
hg1742736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533574
SamplesHGDP00913
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)nsv456208
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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