A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467513



Internal ID15527578
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124n27
Supporting Variantsnssv542789
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)nsv467513
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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