A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv513n27



Internal ID22767242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54031284..54038172hg38UCSC Ensembl
chr20:52647823..52654711hg19UCSC Ensembl
chr20:52081230..52088118hg18UCSC Ensembl
chr20:52081230..52088118hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
hg176889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459014, nsv459015, nsv459010, nsv459018, nsv459011, nsv459009, nsv459013, nsv459017, nsv459012, nsv459016
SamplesHGDP00730, HGDP00699, NINDS_118, 1782681263_A, HGDP00741, 1782681216_A, 1780854464_A, 1780854486_A, NINDS_220, HGDP00671
Known GenesBCAS1
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)dgv513n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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