A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533675



Internal ID15511783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69461590..69504881hg38UCSC Ensembl
Innerchr14:69928307..69971598hg19UCSC Ensembl
Innerchr14:68998060..69041351hg18UCSC Ensembl
Innerchr14:68998060..69041351hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3843292
hg1943292
hg1843292
hg1743292
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456335
Supporting Variants
SamplesNINDS_146
Known GenesPLEKHD1, SLC39A9
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)nssv533675
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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