A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535254



Internal ID15504274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73078389..73108504hg38UCSC Ensembl
Innerchr18:70745624..70775739hg19UCSC Ensembl
Innerchr18:68896604..68926719hg18UCSC Ensembl
Innerchr18:68896604..68926719hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3830116
hg1930116
hg1830116
hg1730116
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458291
Supporting Variants
Samples1782681080_A
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)nssv535254
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