A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n27



Internal ID20132263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12774110..12854043hg38UCSC Ensembl
chr1:12834253..12913896hg19UCSC Ensembl
chr1:12756840..12836483hg18UCSC Ensembl
chr1:12768519..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3879934
hg1979644
hg1879644
hg1779644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466505, nsv466727
Samples1798860570_A, HGDP00007
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
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)dgv5n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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