A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467309



Internal ID15527374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:66020969..66629690hg38UCSC Ensembl
Innerchr10:67780727..68389448hg19UCSC Ensembl
Innerchr10:67450733..68059454hg18UCSC Ensembl
Innerchr10:67450733..68059454hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38608722
hg19608722
hg18608722
hg17608722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542636
SamplesHGDP00785
Known GenesCTNNA3
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)nsv467309
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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