A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536903



Internal ID15509818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72450..153276hg38UCSC Ensembl
Innerchr3:114133..194959hg19UCSC Ensembl
Innerchr3:89133..169959hg18UCSC Ensembl
Innerchr3:89133..169959hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3880827
hg1980827
hg1880827
hg1780827
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460302
Supporting Variants
SamplesHGDP01090
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)nssv536903
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