A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533555



Internal ID15502914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27554600..27659018hg38UCSC Ensembl
Innerchr14:28023806..28128224hg19UCSC Ensembl
Innerchr14:27093646..27198064hg18UCSC Ensembl
Innerchr14:27093646..27198064hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38104419
hg19104419
hg18104419
hg17104419
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456179
Supporting Variants
Samples1780862001_A
Known GenesLINC00645
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)nssv533555
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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