A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv257n27



Internal ID20132515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63308966..63391090hg38UCSC Ensembl
chr14:63775684..63857808hg19UCSC Ensembl
chr14:62845437..62927561hg18UCSC Ensembl
chr14:62845437..62927561hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882125
hg1982125
hg1882125
hg1782125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456324, nsv456325
Samples1780862274_A, 1780854257_A
Known GenesGPHB5, PPP2R5E
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)dgv257n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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