A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533569



Internal ID15157218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:33461004..33564881hg38UCSC Ensembl
Innerchr14:33930210..34034087hg19UCSC Ensembl
Innerchr14:32999961..33103838hg18UCSC Ensembl
Innerchr14:32999961..33103838hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38103878
hg19103878
hg18103878
hg17103878
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456201
Supporting Variants
Samples1780862457_A
Known GenesNPAS3
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)nssv533569
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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