A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456089



Internal ID15169468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98517173..98596057hg38UCSC Ensembl
Innerchr13:99169427..99248311hg19UCSC Ensembl
Innerchr13:97967428..98046312hg18UCSC Ensembl
Innerchr13:97967428..98046312hg17UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3878885
hg1978885
hg1878885
hg1778885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533494
SamplesHGDP01287
Known GenesSTK24
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)nsv456089
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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