A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458045



Internal ID15171424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31389081..31476502hg38UCSC Ensembl
Innerchr18:28969044..29056465hg19UCSC Ensembl
Innerchr18:27223042..27310463hg18UCSC Ensembl
Innerchr18:27223042..27310463hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3887422
hg1987422
hg1887422
hg1787422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535101
Samples1780862557_A
Known GenesDSG3, DSG4
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)nsv458045
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