A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv671n27



Internal ID22767400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152647942..152677136hg38UCSC Ensembl
chr4:153569094..153598288hg19UCSC Ensembl
chr4:153788544..153817738hg18UCSC Ensembl
chr4:153926699..153955893hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3829195
hg1929195
hg1829195
hg1729195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461689, nsv461688
SamplesHGDP00135, HGDP00364
Known GenesTMEM154
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)dgv671n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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