A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542789



Internal ID15506206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133404452..133470611hg38UCSC Ensembl
Innerchr10:135217956..135284115hg19UCSC Ensembl
Innerchr10:135067946..135134105hg18UCSC Ensembl
Innerchr10:135106837..135172996hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3866160
hg1966160
hg1866160
hg1766160
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467513
Supporting Variants
SamplesHGDP00433
Known GenesMTG1, SCART1, SPRN
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)nssv542789
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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