A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533721



Internal ID15507138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:86048831..86159910hg38UCSC Ensembl
Innerchr14:86515175..86626254hg19UCSC Ensembl
Innerchr14:85584928..85696007hg18UCSC Ensembl
Innerchr14:85584928..85696007hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38111080
hg19111080
hg18111080
hg17111080
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456388
Supporting Variants
SamplesHGDP00613
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)nssv533721
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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