A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456316



Internal ID15516381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51295971..51328705hg38UCSC Ensembl
Innerchr14:51762689..51795423hg19UCSC Ensembl
Innerchr14:50832439..50865173hg18UCSC Ensembl
Innerchr14:50832439..50865173hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3832735
hg1932735
hg1832735
hg1732735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533659
SamplesHGDP00805
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)nsv456316
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer