A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455989



Internal ID15516054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76549398..76612570hg38UCSC Ensembl
Innerchr13:77123533..77186705hg19UCSC Ensembl
Innerchr13:76021534..76084706hg18UCSC Ensembl
Innerchr13:76021534..76084706hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3863173
hg1963173
hg1863173
hg1763173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533425
SamplesHGDP01398
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)nsv455989
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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