A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457639



Internal ID15517704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3278090..3344358hg38UCSC Ensembl
Innerchr17:3181384..3247652hg19UCSC Ensembl
Innerchr17:3128134..3194402hg18UCSC Ensembl
Innerchr17:3128134..3194402hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3866269
hg1966269
hg1866269
hg1766269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534782
SamplesHGDP00540
Known GenesOR3A1, OR3A2, OR3A4P
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)nsv457639
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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