A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455824



Internal ID15169203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19157877..19184771hg38UCSC Ensembl
Innerchr13:19732017..19758911hg19UCSC Ensembl
Innerchr13:18630017..18656911hg18UCSC Ensembl
Innerchr13:18630017..18656911hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3826895
hg1926895
hg1826895
hg1726895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533298
Samples1780862081_A
Known GenesTUBA3C
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)nsv455824
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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