A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533679



Internal ID15505934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73953737..74016745hg38UCSC Ensembl
Innerchr14:74420440..74483448hg19UCSC Ensembl
Innerchr14:73490193..73553201hg18UCSC Ensembl
Innerchr14:73490193..73553201hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3863009
hg1963009
hg1863009
hg1763009
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456339
Supporting Variants
SamplesHGDP00286
Known GenesCOQ6, ENTPD5
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)nssv533679
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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