A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456098



Internal ID15516163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102006303..102066879hg38UCSC Ensembl
Innerchr13:102658653..102719229hg19UCSC Ensembl
Innerchr13:101456654..101517230hg18UCSC Ensembl
Innerchr13:101456654..101517230hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3860577
hg1960577
hg1860577
hg1760577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533502
SamplesHGDP00356
Known GenesFGF14, MIR4705
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)nsv456098
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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