A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv725n27



Internal ID22767454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146225072..146242909hg38UCSC Ensembl
chr5:145604635..145622472hg19UCSC Ensembl
chr5:145584828..145602665hg18UCSC Ensembl
chr5:145584828..145602665hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3817838
hg1917838
hg1817838
hg1717838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462477, nsv462476
Samples1780854253_A, HGDP01331
Known GenesRBM27
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)dgv725n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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