A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534803



Internal ID15509182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10984945..10996377hg38UCSC Ensembl
Innerchr17:10888262..10899694hg19UCSC Ensembl
Innerchr17:10828987..10840419hg18UCSC Ensembl
Innerchr17:10828987..10840419hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3811433
hg1911433
hg1811433
hg1711433
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457668
Supporting Variants
SamplesHGDP00954
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)nssv534803
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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