A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467354



Internal ID15527419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67589000..67671240hg38UCSC Ensembl
Innerchr10:69348758..69430998hg19UCSC Ensembl
Innerchr10:69018764..69101004hg18UCSC Ensembl
Innerchr10:69018764..69101004hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3882241
hg1982241
hg1882241
hg1782241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542671
SamplesHGDP01033
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)nsv467354
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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