A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455879



Internal ID15515944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47345476..47615971hg38UCSC Ensembl
Innerchr13:47919611..48190106hg19UCSC Ensembl
Innerchr13:46817612..47088107hg18UCSC Ensembl
Innerchr13:46817612..47088107hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38270496
hg19270496
hg18270496
hg17270496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533339
SamplesHGDP00791
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)nsv455879
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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