A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533745



Internal ID15505437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98882014..98918401hg38UCSC Ensembl
Innerchr14:99348351..99384738hg19UCSC Ensembl
Innerchr14:98418104..98454491hg18UCSC Ensembl
Innerchr14:98418104..98454491hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3836388
hg1936388
hg1836388
hg1736388
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv456419
Supporting Variants
SamplesHGDP00134
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)nssv533745
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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