A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv80n27



Internal ID20132338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44707573..44873696hg38UCSC Ensembl
chr10:45203021..45369144hg19UCSC Ensembl
chr10:44523027..44689150hg18UCSC Ensembl
chr10:44523027..44689150hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38166124
hg19166124
hg18166124
hg17166124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466895, nsv466891, nsv466888, nsv466889, nsv466886, nsv466897, nsv466890, nsv466898, nsv466896, nsv466893, nsv466887, nsv466892
Samples1780862090_A, HGDP01253, HGDP01264, 1780862392_A, 1780854592_A, 1780862379_A, HGDP01368, HGDP01362, 1780854535_A, 1780854573_A, HGDP00520, NINDS_40
Known GenesTMEM72-AS1
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)dgv80n27
Frequency
Sample Size1557
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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