A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456349



Internal ID15516414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:82969415..82989691hg38UCSC Ensembl
Innerchr14:83435759..83456035hg19UCSC Ensembl
Innerchr14:82505512..82525788hg18UCSC Ensembl
Innerchr14:82505512..82525788hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3820277
hg1920277
hg1820277
hg1720277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533686
SamplesHGDP00423
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)nsv456349
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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