A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533754



Internal ID15160473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102467010..102565494hg38UCSC Ensembl
Innerchr14:102933347..103031831hg19UCSC Ensembl
Innerchr14:102003100..102101584hg18UCSC Ensembl
Innerchr14:102003100..102101584hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3898485
hg1998485
hg1898485
hg1798485
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456432
Supporting Variants
SamplesHGDP00615
Known GenesANKRD9, MIR4309, TECPR2
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)nssv533754
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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