A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv266n27



Internal ID20132524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104687768..104742230hg38UCSC Ensembl
chr14:105154105..105208567hg19UCSC Ensembl
chr14:104225150..104279612hg18UCSC Ensembl
chr14:104225150..104279612hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3854463
hg1954463
hg1854463
hg1754463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456454, nsv456453
SamplesHGDP00558, 1798860108_A
Known GenesADSSL1, INF2
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)dgv266n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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