A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533659



Internal ID15508334
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456316
Supporting Variants
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)nssv533659
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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