A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv314n27



Internal ID18991324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34426393..34579095hg38UCSC Ensembl
chr15:34718594..34871296hg19UCSC Ensembl
chr15:32505886..32658588hg18UCSC Ensembl
chr15:32505886..32658588hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38152703
hg19152703
hg18152703
hg17152703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456969, nsv457068, nsv457066, nsv457011, nsv456999, nsv457010, nsv456946, nsv456965, nsv457026, nsv457018, nsv457037, nsv456992, nsv457025, nsv457049
SamplesHGDP01375, 1780862108_A, 1780854039_A, NINDS_209, 1788485588_A, HGDP00461, NINDS_202, 1780854129_A, HGDP01303, HGDP00799, 1798860443_A, NINDS_45, HGDP00706, 1780862452_A
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)dgv314n27
Frequency
Sample Size1557
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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