A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534384



Internal ID15157214
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457125
Supporting Variants
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)nssv534384
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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