A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv621n27



Internal ID20132879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151792469..151836961hg38UCSC Ensembl
chr3:151510257..151554749hg19UCSC Ensembl
chr3:152992947..153037439hg18UCSC Ensembl
chr3:152992955..153037447hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3844493
hg1944493
hg1844493
hg1744493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460910, nsv460897, nsv460898, nsv460905, nsv460896, nsv460901, nsv460900, nsv460904, nsv460907, nsv460903, nsv460902
Samples1780854354_A, 1798860292_A, 1780854573_A, 1798860306_A, NINDS_240, NINDS_113, NINDS_251, HGDP01373, NINDS_268, 1780854295_A, 1780854058_A
Known GenesAADAC, MIR548H2
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)dgv621n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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