A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv789n27



Internal ID22767518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164709839..164800526hg38UCSC Ensembl
chr6:165130872..165214015hg19UCSC Ensembl
chr6:165050862..165134005hg18UCSC Ensembl
chr6:165101283..165184426hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3890688
hg1983144
hg1883144
hg1783144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464130, nsv464131, nsv464135, nsv464134
SamplesHGDP00703, HGDP00872, HGDP00861, HGDP00125
Known Genes
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)dgv789n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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