A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455875



Internal ID15169254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45415321..45479409hg38UCSC Ensembl
Innerchr13:45989456..46053544hg19UCSC Ensembl
Innerchr13:44887456..44951545hg18UCSC Ensembl
Innerchr13:44887456..44951545hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3864089
hg1964089
hg1864090
hg1764090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533335
SamplesHGDP00682
Known GenesCOG3, SLC25A30
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)nsv455875
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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