A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456128



Internal ID15169507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111979751..112146300hg38UCSC Ensembl
Innerchr13:112634065..112800614hg19UCSC Ensembl
Innerchr13:111682066..111848615hg18UCSC Ensembl
Innerchr13:111682066..111848615hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38166550
hg19166550
hg18166550
hg17166550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533527
Samples1780862444_A
Known GenesSOX1
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)nsv456128
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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