A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456084



Internal ID15516149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:97875185..97888965hg38UCSC Ensembl
Innerchr13:98527439..98541219hg19UCSC Ensembl
Innerchr13:97325440..97339220hg18UCSC Ensembl
Innerchr13:97325440..97339220hg17UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3813781
hg1913781
hg1813781
hg1713781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533489
SamplesHGDP00882
Known Genes
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)nsv456084
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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