A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457125



Internal ID15170504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45128520..45158125hg38UCSC Ensembl
Innerchr15:45420718..45450323hg19UCSC Ensembl
Innerchr15:43208010..43237615hg18UCSC Ensembl
Innerchr15:43208010..43237615hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3829606
hg1929606
hg1829606
hg1729606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534384
Samples1780862456_A
Known GenesDUOX1, DUOXA1
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)nsv457125
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