A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv311n27



Internal ID20132569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34426393..34508394hg38UCSC Ensembl
chr15:34718594..34800595hg19UCSC Ensembl
chr15:32505886..32587887hg18UCSC Ensembl
chr15:32505886..32587887hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3882002
hg1982002
hg1882002
hg1782002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456847, nsv456882, nsv456843, nsv456833, nsv456902, nsv456858, nsv456824, nsv456910, nsv456869, nsv456867, nsv456887, nsv456840, nsv456876, nsv456827, nsv456832, nsv456849, nsv456923, nsv456839, nsv456856, nsv456831, nsv456838, nsv456855, nsv456922, nsv456842
SamplesHGDP00470, HGDP01340, HGDP00708, 1780854518_A, HGDP00568, HGDP00462, 1798860072_A, HGDP00307, HGDP00463, HGDP00791, HGDP00279, NINDS_84, NINDS_10, HGDP00977, HGDP00118, HGDP00582, 1798860047_A, HGDP00469, HGDP01096, HGDP00450, HGDP00005, HGDP00302, HGDP00732, HGDP01195
Known GenesGOLGA8A
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)dgv311n27
Frequency
Sample Size1557
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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