A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv949n27



Internal ID20133207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114283521..114343856hg38UCSC Ensembl
chr9:117045801..117106136hg19UCSC Ensembl
chr9:116085622..116145957hg18UCSC Ensembl
chr9:114125355..114185690hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3860336
hg1960336
hg1860336
hg1760336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466537, nsv466540, nsv466545, nsv466541, nsv466538, nsv466544, nsv466546, nsv466542, nsv466543
SamplesHGDP00578, HGDP00600, HGDP00734, HGDP00582, HGDP00573, HGDP00584, HGDP00604, HGDP00572, HGDP00567
Known GenesAKNA, COL27A1, ORM1, ORM2
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)dgv949n27
Frequency
Sample Size1557
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer